Materiały źródłowe

• #1 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549787/

  CVID affects approximately 1 of 25000 individuals, with a higher prevalence in northern Europe. […] It is typically most diagnosed after puberty, being the majority between 20 and 45 years of age. […] It does not show any predilection for race or gender.

• #2 Common variable immune deficiency (CVID) | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/common-variable-immune-deficiency-cvid

  Common variable immune deficiency (CVID) is one of the most frequently diagnosed primary immunodeficiencies. CVID is a relatively frequent form of primary immunodeficiency, found in about 1 in 25,000 persons; this is the reason it is called common. […] Some people with CVID also have an increased incidence of autoimmune or inflammatory conditions, granulomas, and an increased susceptibility to cancer when compared to the general population. […] CVID should be suspected in children or adults who have a history of recurrent bacterial infections involving ears, sinuses, bronchi, and lungs. […] The characteristic laboratory features include low levels of serum immunoglobulins, including IgG, often IgA, and sometimes IgM. […] The aim of the treatment is to keep the individual free of infections and to prevent the development of chronic inflammatory changes in tissues.

• #3 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549787/

  CVID affects approximately 1 of 25000 individuals, with a higher prevalence in northern Europe. […] It is typically most diagnosed after puberty, being the majority between 20 and 45 years of age. […] It does not show any predilection for race or gender.

• #4 Common Variable Immunodeficiency | Select 5-Minute Pediatrics Topics

  https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14174/all/Common_Variable_Immunodeficiency?q=Systemic+erythematosus+lupus

  Prevalence has been estimated at between 1:100,000 and 1:10,000 of the population. […] Prevalence can vary across different populations. […] Can present at any age. […] Most diagnosed between 20 and 40 years old. […] Diagnosis is usually made several years after the onset of recurrent infections (pneumonia, sinusitis, otitis). […] A subgroup of children has been described in which the onset of disease was most often 5 years of age. This group was characterized by a relapsing and remitting course in which autoimmune disease predominated. […] About 20-25% of patients with common variable immunodeficiency have one or more autoimmune conditions at time of diagnosis. […] Affects males and females equally.

• #5 Common Variable Immunodeficiency – Page 3 of 7 – The Rheumatologist

  https://www.the-rheumatologist.org/article/common-variable-immunodeficiency/3/?singlepage=1

  Common variable immunodeficiency (CVID) has been recognized as the most common symptomatic form of antibody deficiency diagnosed in adulthood since its first description by Janeway and colleagues. CVID affects both genders equally, with an incidence estimated at 1 in 10,000 to 1 in 50,000. There is a significant delayfour to six years on averagebetween the median age of symptom onset and the age at diagnosis. […] The rare incidence and high clinical variability of CVID can present a diagnostic challenge. Because there is no specific test for diagnosing CVID, diagnosis is made by excluding similar conditions. […] The identification of the first genetic defects associated with a CVID phenotype mark substantial progress for clinical immunology. These findings not only allow a definite diagnosis in a small subgroup of patients, but also serve as models for understanding the pathogenesis of CVID as well as the function of the normal immune system. […] Genetic testing may also reduce the time delay between onset of initial symptoms and diagnosis, improving patient outcomes.

• #6 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549787/

  CVID affects approximately 1 of 25000 individuals, with a higher prevalence in northern Europe. […] It is typically most diagnosed after puberty, being the majority between 20 and 45 years of age. […] It does not show any predilection for race or gender.

• #7 Common Variable Immunodeficiency: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1051103-overview

  The prevalence of common variable immunodeficiency (CVID) is approximately 1 case per 50,000 population worldwide. […] CVID does not show a predilection for any specific race. […] CVID equally affects males and females. […] CVID can occur in infants, young children, adolescents, or even those aged 20-40 years or older. CVID can become evident at any time from infancy to after the fourth decade of life. Peaks of onset occur in children aged 1-5 years and in persons aged 16-20 years. More than two thirds of patients are aged 21 years or older when CVID is diagnosed.

• #8 Common variable immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Common_variable_immunodeficiency

  CVID has an estimated prevalence of about 1:50,000 in Caucasians. […] The disease seems to be less prevalent among Asians and African Americans. […] A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency. […] 10-25% of people inherit the disease, typically through autosomal-dominant inheritance. […] Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. […] CVID shortens the lifespan, but no study currently has a median age recorded. […] One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive. […] Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population. […] Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections.

• #9 Common variable immunodeficiency – wikidoc

  https://www.wikidoc.org/index.php/Common_variable_immunodeficiency

  CVID has an estimated prevalence ranging from a low of 2 per 100,000 to a high of 4 per 100,000 with an average of 3 per 100,000. […] The typical patient is after puberty and between 20 and 40 years age. About 20% of patients are diagnosed in childhood. […] There is no gender predilection to common variable immunodeficiency. […] Race is not associated with an increased risk of common variable immunodeficiency. However, there is some evidence of higher prevalence among individuals of northern European descent. […] The majority of patients with CVID have evidence of immune dysregulation leading to autoimmunity, inflammatory disorders, and malignant disease. […] The prognosis with the advent of immune globulin treatment is generally good, and the incidence of death associated with acute bacterial infection in CVID decreased dramatically. […] In the several large series of following patients with CVID, the leading causes of death were respiratory failure due to bronchiectasis, lymphoma, and liver disease.

• #10 (PDF) Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

  https://www.academia.edu/116684562/Common_Variable_Immunodeficiency_Epidemiology_Pathogenesis_Clinical_Manifestations_Diagnosis_Classification_and_Management

  Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum IgG, IgA, and/or IgM, with a loss of Ab production. […] The diagnosis is most commonly made in adults between the ages of 20 and 40 years, but both children and much older adults can be found to have this immune defect. […] Common variable immunodeficiency disorders are a mixed group of heterogeneous conditions linked by lack of immune globulin production and primary antibody failure. […] Common variable immunodeficiency (CVID) describes a heterogeneous subset of hypogammaglobulinemias of unknown etiology. […] CVID is the most frequent symptomatic primary immunodeficiency encountered in adults. […] Long-term outcome is significantly influenced by delay of diagnosis and treatment and the presence of chronic inflammatory complications.

• #11 Common Variable Immunodeficiency: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1051103-overview

  The prevalence of common variable immunodeficiency (CVID) is approximately 1 case per 50,000 population worldwide. […] CVID does not show a predilection for any specific race. […] CVID equally affects males and females. […] CVID can occur in infants, young children, adolescents, or even those aged 20-40 years or older. CVID can become evident at any time from infancy to after the fourth decade of life. Peaks of onset occur in children aged 1-5 years and in persons aged 16-20 years. More than two thirds of patients are aged 21 years or older when CVID is diagnosed.

• #12 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549787/

  CVID affects approximately 1 of 25000 individuals, with a higher prevalence in northern Europe. […] It is typically most diagnosed after puberty, being the majority between 20 and 45 years of age. […] It does not show any predilection for race or gender.

• #13 Common Variable Immunodeficiency: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1051103-overview

  The prevalence of common variable immunodeficiency (CVID) is approximately 1 case per 50,000 population worldwide. […] CVID does not show a predilection for any specific race. […] CVID equally affects males and females. […] CVID can occur in infants, young children, adolescents, or even those aged 20-40 years or older. CVID can become evident at any time from infancy to after the fourth decade of life. Peaks of onset occur in children aged 1-5 years and in persons aged 16-20 years. More than two thirds of patients are aged 21 years or older when CVID is diagnosed.

• #14 Common Variable Immunodeficiency – Page 3 of 7 – The Rheumatologist

  https://www.the-rheumatologist.org/article/common-variable-immunodeficiency/3/?singlepage=1

  Common variable immunodeficiency (CVID) has been recognized as the most common symptomatic form of antibody deficiency diagnosed in adulthood since its first description by Janeway and colleagues. CVID affects both genders equally, with an incidence estimated at 1 in 10,000 to 1 in 50,000. There is a significant delayfour to six years on averagebetween the median age of symptom onset and the age at diagnosis. […] The rare incidence and high clinical variability of CVID can present a diagnostic challenge. Because there is no specific test for diagnosing CVID, diagnosis is made by excluding similar conditions. […] The identification of the first genetic defects associated with a CVID phenotype mark substantial progress for clinical immunology. These findings not only allow a definite diagnosis in a small subgroup of patients, but also serve as models for understanding the pathogenesis of CVID as well as the function of the normal immune system. […] Genetic testing may also reduce the time delay between onset of initial symptoms and diagnosis, improving patient outcomes.

• #15

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. […] We investigated whether some diseases diagnosed during out-patient visits or admission to hospitals could act as indicator conditions for CVID diagnosis. […] Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency with an estimated prevalence of 1:25,000 among adults in Europe. […] A correct and timely diagnosis is challenged by the rare occurrence, the heterogenous presentation, and the lack of knowledge of the disease among non-specialists. […] Several studies have displayed a large diagnostic delay with a median ranging from 3 to 7 years in Europe. […] Delayed CVID diagnosis is a major problem due to the associated increased morbidity and mortality and reduced quality of life.

• #16 Incidence of malignancy in patients with common variable immunodeficiency according to therapeutic delay: an Italian retrospective, monocentric cohort study | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-020-00451-z

  Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency and has a broad spectrum of clinical manifestations. Among non-infectious complications, an increased incidence of malignancies may have a special relevance for survival. […] A higher frequency of malignancy in CVID patients compared with the general population, with a 512-fold risk increase, has been reported. […] The clinical spectrum of non-infectious complications has been recently described in a cohort of 623 patients with CVID in the USA. […] The observation of clinical characteristics of our patients with CVID may suggest that an early institution of IgG replacement therapy could be of benefit for the prevention of malignant complications. […] The median therapeutic delay was 11 years in patients with malignancy vs 8 years in those without malignant complication.

• #17 Explainer: What Is Common Variable Immunodeficiency (CVID)?

  https://www.csl.com/we-are-csl/vita-original-stories/2024/explainer-what-is-common-variable-immunodeficiency

  CVID is among the most commonly diagnosed types of primary immune deficiencies, according to the Immune Deficiency Foundation. […] It has common in its name but its still a rare disease, which in the United States means that fewer than 200,000 patients are affected, says the National Organization for Rare Disorders (NORD). […] NORD explains that CVID is among the most prevalent primary immune conditions that have symptoms. It affects every one in 25,000 to 50,000 people, reports Mayo Clinic. […] Diagnosis of CVID varies worldwide, according to German researchers Weifenbach, Schneckenburger, and Ltters. They found that CVID affects between 0.001 and 3.374 per 100,000 people. […] Countries where the standard of living is higher report higher numbers of CVID patients than in places that score lower on the Human Development Index, a measure created by the United Nations to gauge longevity, quality of life and level of education among populations.

• #18 Explainer: What Is Common Variable Immunodeficiency (CVID)?

  https://www.csl.com/we-are-csl/vita-original-stories/2024/explainer-what-is-common-variable-immunodeficiency

  CVID is among the most commonly diagnosed types of primary immune deficiencies, according to the Immune Deficiency Foundation. […] It has common in its name but its still a rare disease, which in the United States means that fewer than 200,000 patients are affected, says the National Organization for Rare Disorders (NORD). […] NORD explains that CVID is among the most prevalent primary immune conditions that have symptoms. It affects every one in 25,000 to 50,000 people, reports Mayo Clinic. […] Diagnosis of CVID varies worldwide, according to German researchers Weifenbach, Schneckenburger, and Ltters. They found that CVID affects between 0.001 and 3.374 per 100,000 people. […] Countries where the standard of living is higher report higher numbers of CVID patients than in places that score lower on the Human Development Index, a measure created by the United Nations to gauge longevity, quality of life and level of education among populations.

• #19 Progression of Common Variable Immunodeficiency in Romanian Patients

  https://www.scitechnol.com/peer-review/progression-of-common-variable-immunodeficiency-in-romanian-patients-HNzK.php?article_id=6490

  Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and belongs to the class of predominantly antibody deficiencies. For the positive diagnosis of CVID the following criteria must be fulfilled: a) serum levels of Ig G and at least one of the classes IgA and IgM at least 2 standard deviations below the average for age; b) patient age 4 years at diagnosis and c) any other defined causes of hypogammaglobulimenia (primary or secondary) have been excluded. Recent sets of diagnostic criteria additionally include clinical, serum immunology, immunophenotype, and histological characteristics that support the diagnosis of CVID (i.e. they increase the diagnostic probability). […] In Europe there are high differences in CVID prevalence in the general population between the states and in the prevalence of disease complications between the centers. Some of these differences are statistically significant. What is more, these prevalence parameters differ between the cohorts in Europe and those in the USA. This indicates the low relevance of the statistic results obtained in a uni- or multicentric group of patients for other groups of patients.

• #20 Progression of Common Variable Immunodeficiency in Romanian Patients

  https://www.scitechnol.com/peer-review/progression-of-common-variable-immunodeficiency-in-romanian-patients-HNzK.php?article_id=6490

  Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency and belongs to the class of predominantly antibody deficiencies. For the positive diagnosis of CVID the following criteria must be fulfilled: a) serum levels of Ig G and at least one of the classes IgA and IgM at least 2 standard deviations below the average for age; b) patient age 4 years at diagnosis and c) any other defined causes of hypogammaglobulimenia (primary or secondary) have been excluded. Recent sets of diagnostic criteria additionally include clinical, serum immunology, immunophenotype, and histological characteristics that support the diagnosis of CVID (i.e. they increase the diagnostic probability). […] In Europe there are high differences in CVID prevalence in the general population between the states and in the prevalence of disease complications between the centers. Some of these differences are statistically significant. What is more, these prevalence parameters differ between the cohorts in Europe and those in the USA. This indicates the low relevance of the statistic results obtained in a uni- or multicentric group of patients for other groups of patients.

• #21 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  Non-infectious complications have become a major cause of morbidity and mortality in patients with Common Variable Immunodeficiency (CVID). The monitoring of patients with CVID prior to the development of non-infectious complications is not well defined. […] Our objectives were to systematically review the current literature on the monitoring of CVID patients without non-infectious complications and to develop recommendations for such monitoring. […] Nine studies on CVID monitoring, including 3 cohort studies, 3 experts opinions, 2 consensus statements and a single guideline report were identified. […] Most studies did not address the role of abdominal imaging to screen for liver diseases or endoscopy to screen for gastric cancer in asymptomatic patients with uncomplicated CVID. […] There is paucity of evidence-based information to guide the routine monitoring of CVID patients without non-infectious complications.

• #22 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  The introduction of life-long intravenous immunoglobulin (IVIg) or subcutaneous immunoglobulin (SCIg) replacement therapy for patients with CVID has led to a marked decrease in the incidence of infections, the rate of hospitalization, and death from acute bacterial infections. […] The considerable impact of the non-infectious complications emphasizes the importance of their timely detection, especially among patients with CVID that have been free of them. […] However, the precise frequency and extent of surveillance of such interventions in asymptomatic patients with uncomplicated CVID is not well defined. […] Accordingly, we performed a systematic literature review on the monitoring of CVID patients without non-infectious complications. […] Overall, there is a lack of a uniform practice for monitoring patients with uncomplicated CVID.

• #23 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  Until further evidence becomes available, it is standard to perform clinical assessment and bloodwork every 6-12 months in stable patients; it is common to perform PFT annually and chest imaging as needed to screen for lung diseases; it is infrequent to perform abdominal imaging to screen for liver diseases and lymphoproliferation; and it is rare to perform routine endoscopy to screen for gastric cancer. […] Our review shows that there is very limited information on how to best monitor patients with CVID prior to the development of non-infectious complications.

• #24 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  Until further evidence becomes available, it is standard to perform clinical assessment and bloodwork every 6-12 months in stable patients; it is common to perform PFT annually and chest imaging as needed to screen for lung diseases; it is infrequent to perform abdominal imaging to screen for liver diseases and lymphoproliferation; and it is rare to perform routine endoscopy to screen for gastric cancer. […] Our review shows that there is very limited information on how to best monitor patients with CVID prior to the development of non-infectious complications.

• #25

  https://www.tropicalgastro.com/articles/38/1/Surveillance-in-common-variable-immunodeficiency-for-gastric-cancer.html

  Common variable immunodeficiency (CVID) is a heterogeneous disorder of B-cells, which is characterized by marked reduction of serum levels of IgG, IgA or IgM, recurrent bacterial infections, impaired antibody response of B cells, and normal or near-normal T-cell immunity. […] Common Variable Immunodeficiency (CVID) is associated with a broad spectrum of symptoms related to infections, chronic lung diseases, autoimmune diseases, and tumors. […] Patients with CVID are at an increased risk of malignancy, especially lymphoma and gastric cancers. […] An increased risk of gastric cancer in patients with CVIDs was recognized in 1985, when a prospective study of 220 patients with CVIDs followed for 11 years reported a 47-fold increased risk although only 7 patients were diagnosed to have gastric malignancy.

• #26 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  The introduction of life-long intravenous immunoglobulin (IVIg) or subcutaneous immunoglobulin (SCIg) replacement therapy for patients with CVID has led to a marked decrease in the incidence of infections, the rate of hospitalization, and death from acute bacterial infections. […] The considerable impact of the non-infectious complications emphasizes the importance of their timely detection, especially among patients with CVID that have been free of them. […] However, the precise frequency and extent of surveillance of such interventions in asymptomatic patients with uncomplicated CVID is not well defined. […] Accordingly, we performed a systematic literature review on the monitoring of CVID patients without non-infectious complications. […] Overall, there is a lack of a uniform practice for monitoring patients with uncomplicated CVID.

• #27 Monitoring patients with uncomplicated common variable immunodeficiency: a systematic review | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-022-00661-7

  The introduction of life-long intravenous immunoglobulin (IVIg) or subcutaneous immunoglobulin (SCIg) replacement therapy for patients with CVID has led to a marked decrease in the incidence of infections, the rate of hospitalization, and death from acute bacterial infections. […] The considerable impact of the non-infectious complications emphasizes the importance of their timely detection, especially among patients with CVID that have been free of them. […] However, the precise frequency and extent of surveillance of such interventions in asymptomatic patients with uncomplicated CVID is not well defined. […] Accordingly, we performed a systematic literature review on the monitoring of CVID patients without non-infectious complications. […] Overall, there is a lack of a uniform practice for monitoring patients with uncomplicated CVID.

• #28 Variable immunodeficiency score upfront analytical link (VISUAL), a proposal for combined prognostic score at diagnosis of common variable immunodeficiency | Scientific Reports

  https://www.nature.com/articles/s41598-021-91791-2

  Common variable immunodeficiency (CVID) is the most commonly symptomatic primary immunodeficiency disorders (PIDD)1, with a prevalence of 1 in 25,000 to 50,000 individuals. Both genders are equally affected2,3. The broad and heterogeneous clinical spectrum that characterizes CVID is associated with quite different disease course and prognosis, highlighting the need of prediction tools for complications. […] The VISUAL score was developed from the laboratory parameters at CVID diagnosis of each patient, as follows: (i) a list of candidate variables aimed to predict the clinical severity of CVID patients was analyzed (serum immunoglobulins G, A, M and E, IgG subclasses, production of specific antibodies, B lymphocytes, memory B lymphocyte subsets, CD4+ and CD8+ T-lymphocytes, natural killer cells, C3 and C4 complement factors); (ii) only those variables that proved to be statistically significant with p values0.05 in the multivariable tests (ANOVA) for severity score were included in VISUAL (smB lymphocytes, IgA, specific Ab responses, CD4+ T-lymphocytes); (iii) due to the particular clinical significance of the increase in serum IgM described in previous studies17,39, IgM was considered within the score.

• #29 Variable immunodeficiency score upfront analytical link (VISUAL), a proposal for combined prognostic score at diagnosis of common variable immunodeficiency | Scientific Reports

  https://www.nature.com/articles/s41598-021-91791-2

  Common variable immunodeficiency (CVID) is the most commonly symptomatic primary immunodeficiency disorders (PIDD)1, with a prevalence of 1 in 25,000 to 50,000 individuals. Both genders are equally affected2,3. The broad and heterogeneous clinical spectrum that characterizes CVID is associated with quite different disease course and prognosis, highlighting the need of prediction tools for complications. […] The VISUAL score was developed from the laboratory parameters at CVID diagnosis of each patient, as follows: (i) a list of candidate variables aimed to predict the clinical severity of CVID patients was analyzed (serum immunoglobulins G, A, M and E, IgG subclasses, production of specific antibodies, B lymphocytes, memory B lymphocyte subsets, CD4+ and CD8+ T-lymphocytes, natural killer cells, C3 and C4 complement factors); (ii) only those variables that proved to be statistically significant with p values0.05 in the multivariable tests (ANOVA) for severity score were included in VISUAL (smB lymphocytes, IgA, specific Ab responses, CD4+ T-lymphocytes); (iii) due to the particular clinical significance of the increase in serum IgM described in previous studies17,39, IgM was considered within the score.

• #30 Variable immunodeficiency score upfront analytical link (VISUAL), a proposal for combined prognostic score at diagnosis of common variable immunodeficiency | Scientific Reports

  https://www.nature.com/articles/s41598-021-91791-2

  The novel VISUAL score, using combined immunological biomarkers at CVID diagnosis, early predicted the severity of clinical manifestations or outcomes in our CVID cohort by two disparate CVID clinical scores, being independent of the course of the disease, with sensitivity of 85% and negative predictive value 77%. VISUAL showed superior sensitivity and accuracy to predict severity than the surrogate marker routinely used in clinical practice, namely smB phenotype alone. A cut-off of VISUAL 10 properly discriminated CVID patients with severe outcome (Cluster B). […] The proposed extended prognostic score proved to be a useful tool to classify CVID patients at diagnosis in order to anticipate and adjust follow-up and management. Notwithstanding that it is complicated to establish a linear distribution in all patients from a real-life scenario, so the performance of any instrument should be evaluated in individuals with quiescence or mild disease activity separately from patients with moderate to severe disease activity.

• #31

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  We hypothesized that CVID patients would have an increased risk of certain conditions leading to hospital admissions and/or visits in the outpatient department (OPD) compared to the general population and that some of these conditions could act as indicator conditions for a CVID diagnosis. […] In this study, we aimed to investigate the association between diseases diagnosed at out-patient visits or admission to hospitals and subsequent risk of CVID diagnosis to identify indicator conditions for CVID that could lead to targeted screening for hypogammaglobulinemia and hence an earlier CVID diagnosis. […] In this nationwide, population-based nested case-control study, we found that CVID patients had four times more hospital contact in the five years prior to diagnosis compared to age-, sex-, and region-matched controls from the general population.

• #32

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  Although a diagnosis of infections, mainly LRTIs, and lung diseases were associated with the highest risk for a subsequent CVID diagnosis, an association was observed concerning a diagnosis for more than 50% of the 33 disease categories and 13% of the 210 subcategories. […] Importantly, the association was not only observed in the last year before diagnosis, suggesting the possibility for earlier CVID diagnosis. […] This study suggests the potential for earlier CVID diagnosis by using targeted testing for antibody deficiency in patients diagnosed with CVID indicator conditions.

• #33

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  Although a diagnosis of infections, mainly LRTIs, and lung diseases were associated with the highest risk for a subsequent CVID diagnosis, an association was observed concerning a diagnosis for more than 50% of the 33 disease categories and 13% of the 210 subcategories. […] Importantly, the association was not only observed in the last year before diagnosis, suggesting the possibility for earlier CVID diagnosis. […] This study suggests the potential for earlier CVID diagnosis by using targeted testing for antibody deficiency in patients diagnosed with CVID indicator conditions.

• #34 Common variable immunodeficiency – wikidoc

  https://www.wikidoc.org/index.php/Common_variable_immunodeficiency

  CVID has an estimated prevalence ranging from a low of 2 per 100,000 to a high of 4 per 100,000 with an average of 3 per 100,000. […] The typical patient is after puberty and between 20 and 40 years age. About 20% of patients are diagnosed in childhood. […] There is no gender predilection to common variable immunodeficiency. […] Race is not associated with an increased risk of common variable immunodeficiency. However, there is some evidence of higher prevalence among individuals of northern European descent. […] The majority of patients with CVID have evidence of immune dysregulation leading to autoimmunity, inflammatory disorders, and malignant disease. […] The prognosis with the advent of immune globulin treatment is generally good, and the incidence of death associated with acute bacterial infection in CVID decreased dramatically. […] In the several large series of following patients with CVID, the leading causes of death were respiratory failure due to bronchiectasis, lymphoma, and liver disease.

• #35 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.520.7% and usually occurs during the 4th6th decade of life. Non-Hodgkin lymphoma is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. […] Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population. […] In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.

• #36 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population.12,17 In two large cohorts in New York and Italy, the incidence of cancers was noted to be 15.2% and 20.7% in CVID patients, respectively.14,18 The most common site of malignancy is lymphoid tissues.1921 Recent studies reported that Non-Hodgkin lymphoma (NHL) is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. Among epithelial tumours in CVID patients, gastric adenocarcinoma is the most prevalent cancer.14,2123 In fact, the cumulative incidence of cancers in CVID appears to have expanded, but the data for cancers other than lymphoma are difficult to separate out.24 However, in the New York study the frequency of other malignancies was reported about 7%,14 and 3% in the European Society for immunodeficiencies study.5 In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.17

• #37 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population.12,17 In two large cohorts in New York and Italy, the incidence of cancers was noted to be 15.2% and 20.7% in CVID patients, respectively.14,18 The most common site of malignancy is lymphoid tissues.1921 Recent studies reported that Non-Hodgkin lymphoma (NHL) is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. Among epithelial tumours in CVID patients, gastric adenocarcinoma is the most prevalent cancer.14,2123 In fact, the cumulative incidence of cancers in CVID appears to have expanded, but the data for cancers other than lymphoma are difficult to separate out.24 However, in the New York study the frequency of other malignancies was reported about 7%,14 and 3% in the European Society for immunodeficiencies study.5 In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.17

• #38 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population.12,17 In two large cohorts in New York and Italy, the incidence of cancers was noted to be 15.2% and 20.7% in CVID patients, respectively.14,18 The most common site of malignancy is lymphoid tissues.1921 Recent studies reported that Non-Hodgkin lymphoma (NHL) is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. Among epithelial tumours in CVID patients, gastric adenocarcinoma is the most prevalent cancer.14,2123 In fact, the cumulative incidence of cancers in CVID appears to have expanded, but the data for cancers other than lymphoma are difficult to separate out.24 However, in the New York study the frequency of other malignancies was reported about 7%,14 and 3% in the European Society for immunodeficiencies study.5 In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.17

• #39 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population.12,17 In two large cohorts in New York and Italy, the incidence of cancers was noted to be 15.2% and 20.7% in CVID patients, respectively.14,18 The most common site of malignancy is lymphoid tissues.1921 Recent studies reported that Non-Hodgkin lymphoma (NHL) is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. Among epithelial tumours in CVID patients, gastric adenocarcinoma is the most prevalent cancer.14,2123 In fact, the cumulative incidence of cancers in CVID appears to have expanded, but the data for cancers other than lymphoma are difficult to separate out.24 However, in the New York study the frequency of other malignancies was reported about 7%,14 and 3% in the European Society for immunodeficiencies study.5 In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.17

• #40 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Common variable immunodeficiency (CVID) is a diagnostic category of primary immunodeficiency (PID) which may present with heterogeneous disorders including recurrent infections, autoimmunity, granulomatous diseases, lymphoid and other types of malignancies. Generally, the incidence of malignancy in CVID patients is around 1.520.7% and usually occurs during the 4th6th decade of life. Non-Hodgkin lymphoma is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. […] Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population. […] In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.

• #41 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  Several studies report a high frequency of malignancy in CVID patients.816 Generally, the incidence of cancer in these patients is around 10% (range 1.520.7%, Table 1) and usually occurs during the 46th decade of life, with a risk 512 times higher than in the general population.12,17 In two large cohorts in New York and Italy, the incidence of cancers was noted to be 15.2% and 20.7% in CVID patients, respectively.14,18 The most common site of malignancy is lymphoid tissues.1921 Recent studies reported that Non-Hodgkin lymphoma (NHL) is the most frequent malignancy, followed by epithelial tumours of stomach, breast, bladder and cervix. Among epithelial tumours in CVID patients, gastric adenocarcinoma is the most prevalent cancer.14,2123 In fact, the cumulative incidence of cancers in CVID appears to have expanded, but the data for cancers other than lymphoma are difficult to separate out.24 However, in the New York study the frequency of other malignancies was reported about 7%,14 and 3% in the European Society for immunodeficiencies study.5 In a study by the Australasian Society of Clinical Immunology and Allergy (ASCIA), the increased risks of malignancies in CVID patients compared to the population without CVID were identified as 12-fold for NHL, 7-fold for stomach cancer, 2.49-fold for leukaemia, 2.24-fold for breast cancer, and surprisingly, 146-fold for thymus cancer.17

• #42 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  The exact pathological mechanisms of malignancy in CVID are not fully determined; although several mechanisms have been suggested to contribute to the high susceptibility of these patients to specific types of malignancies. […] The higher incidence of cancer in CVID cases has also been explained by genomic instability. […] There are some proposed risk factors for increased of lymphoma in CVID patients, these include chronic infections (such as HHV8, CMV, EBV and H. pylori), persistent inflammatory autoimmune disease, immune dysregulation and radiosensitivity, but their relative contribution and exact mechanism in CVID is still unknown. […] Epidemiological studies have suggested an increased risk of cancers in CVID patients with female gender, cases with higher levels of serum IgM and polyclonal lymphocytic infiltration phenotype.

• #43 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  The exact pathological mechanisms of malignancy in CVID are not fully determined; although several mechanisms have been suggested to contribute to the high susceptibility of CVID patients to specific types of malignancies.16 These mechanisms include innate genetic instability and genetic predisposition, persistent activation and proliferation of the lymphoid cells during the course of infections, impaired clearance of oncogenic viruses and bacterial infections. […] Epidemiological studies have suggested an increased risk of cancers in CVID patients with female gender, cases with higher levels of serum IgM and polyclonal lymphocytic infiltration phenotype.14,154 Furthermore, family histories of neoplasia could be a hint for the presence of genetic predisposing factor (genes involved in DNA repair and cancer immunosurveillance) in a selected group of patients helping towards finding a cause of immunodeficiency and also for implementation of preventive cares.75,155

• #44 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/es-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  The exact pathological mechanisms of malignancy in CVID are not fully determined; although several mechanisms have been suggested to contribute to the high susceptibility of CVID patients to specific types of malignancies.16 These mechanisms include innate genetic instability and genetic predisposition, persistent activation and proliferation of the lymphoid cells during the course of infections, impaired clearance of oncogenic viruses and bacterial infections. […] Epidemiological studies have suggested an increased risk of cancers in CVID patients with female gender, cases with higher levels of serum IgM and polyclonal lymphocytic infiltration phenotype.14,154 Furthermore, family histories of neoplasia could be a hint for the presence of genetic predisposing factor (genes involved in DNA repair and cancer immunosurveillance) in a selected group of patients helping towards finding a cause of immunodeficiency and also for implementation of preventive cares.75,155

• #45 Common variable immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Common_variable_immunodeficiency

  CVID has an estimated prevalence of about 1:50,000 in Caucasians. […] The disease seems to be less prevalent among Asians and African Americans. […] A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency. […] 10-25% of people inherit the disease, typically through autosomal-dominant inheritance. […] Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. […] CVID shortens the lifespan, but no study currently has a median age recorded. […] One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive. […] Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population. […] Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections.

• #46 Common variable immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Common_variable_immunodeficiency

  CVID has an estimated prevalence of about 1:50,000 in Caucasians. […] The disease seems to be less prevalent among Asians and African Americans. […] A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency. […] 10-25% of people inherit the disease, typically through autosomal-dominant inheritance. […] Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. […] CVID shortens the lifespan, but no study currently has a median age recorded. […] One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive. […] Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population. […] Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections.

• #47 Common Variable Immunodeficiency (CVID) | Concise Medical Knowledge

  https://www.lecturio.com/concepts/common-variable-immunodeficiency-cvid/

  Incidence Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from prevalence, which refers to all cases in the population at a given time. Measures of Disease Frequency: 1:10,000 to 1:50,000 […] The largest group of symptomatic primary immunodeficiencies in adults […] Age of onset in most patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. ClinicianPatient Relationship between 20 and 30 years […] Equal incidence Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from prevalence, which refers to all cases in the population at a given time. Measures of Disease Frequency between genders […] The median age of death from CVID is 44 years (for females) and 42 years (for males).

• #48 Common variable immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Common_variable_immunodeficiency

  CVID has an estimated prevalence of about 1:50,000 in Caucasians. […] The disease seems to be less prevalent among Asians and African Americans. […] A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency. […] 10-25% of people inherit the disease, typically through autosomal-dominant inheritance. […] Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. […] CVID shortens the lifespan, but no study currently has a median age recorded. […] One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive. […] Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population. […] Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections.

• #49 Common variable immunodeficiency – Wikipedia

  https://en.wikipedia.org/wiki/Common_variable_immunodeficiency

  CVID has an estimated prevalence of about 1:50,000 in Caucasians. […] The disease seems to be less prevalent among Asians and African Americans. […] A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency. […] 10-25% of people inherit the disease, typically through autosomal-dominant inheritance. […] Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. […] CVID shortens the lifespan, but no study currently has a median age recorded. […] One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive. […] Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population. […] Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections.

• #50 Malignancies as the Main Cause of Death in Common Variable Immunodeficiency – EMJ

  https://www.emjreviews.com/allergy-immunology/abstract/malignancies-as-the-main-cause-of-death-in-common-variable-immunodeficiency-an-italian-multicentre-study/

  In a large CVID Italian cohort of 462 patients followed-up in three primary immunodeficiency care centres in Italy, we assessed cancer prevalence over a 30-year period. We aimed to estimate the prevalence and mortality rate due to haematological and gastrointestinal malignancies, as well as other cancers. Data on cancers in CVID patients were compared to normative data provided by the Italian Registry for Malignancies. […] The prevalence of malignancies was 26.0%. For CVID patients, the risk of developing cancer was 50.0% at 65 years of age, whereas for the general population it was between 33.3% (females) and 50.0% (males) at 85 years of age. […] By contrast, in CVID patients, lymphoproliferative malignancies were the most commonly diagnosed cancers in both sexes (10%), followed by gastric cancer (6%). This emphasises the need for specific cancer screening programmes in CVID.

• #51 Malignancies as the Main Cause of Death in Common Variable Immunodeficiency – EMJ

  https://www.emjreviews.com/allergy-immunology/abstract/malignancies-as-the-main-cause-of-death-in-common-variable-immunodeficiency-an-italian-multicentre-study/

  While cardiovascular diseases were the primary cause of death in the Italian general population, malignancies were the primary cause of death in CVID patients, accounting for 58% of deaths, followed by infections (23%), chronic lung disease complications (13%), and autoimmunity (7%). […] In conclusion, in this Italian cohort, cancer was the main cause of death in CVID patients. Cancer prevention strategies should be improved to ameliorate survival.

• #52

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. […] We investigated whether some diseases diagnosed during out-patient visits or admission to hospitals could act as indicator conditions for CVID diagnosis. […] Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency with an estimated prevalence of 1:25,000 among adults in Europe. […] A correct and timely diagnosis is challenged by the rare occurrence, the heterogenous presentation, and the lack of knowledge of the disease among non-specialists. […] Several studies have displayed a large diagnostic delay with a median ranging from 3 to 7 years in Europe. […] Delayed CVID diagnosis is a major problem due to the associated increased morbidity and mortality and reduced quality of life.

• #53

  https://link.springer.com/article/10.1007/s10875-023-01590-9

  Delayed diagnosis of common variable immunodeficiency (CVID) remains a serious problem. […] We investigated whether some diseases diagnosed during out-patient visits or admission to hospitals could act as indicator conditions for CVID diagnosis. […] Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency with an estimated prevalence of 1:25,000 among adults in Europe. […] A correct and timely diagnosis is challenged by the rare occurrence, the heterogenous presentation, and the lack of knowledge of the disease among non-specialists. […] Several studies have displayed a large diagnostic delay with a median ranging from 3 to 7 years in Europe. […] Delayed CVID diagnosis is a major problem due to the associated increased morbidity and mortality and reduced quality of life.

• #54 Incidence of malignancy in patients with common variable immunodeficiency according to therapeutic delay: an Italian retrospective, monocentric cohort study | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-020-00451-z

  Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency and has a broad spectrum of clinical manifestations. Among non-infectious complications, an increased incidence of malignancies may have a special relevance for survival. […] A higher frequency of malignancy in CVID patients compared with the general population, with a 512-fold risk increase, has been reported. […] The clinical spectrum of non-infectious complications has been recently described in a cohort of 623 patients with CVID in the USA. […] The observation of clinical characteristics of our patients with CVID may suggest that an early institution of IgG replacement therapy could be of benefit for the prevention of malignant complications. […] The median therapeutic delay was 11 years in patients with malignancy vs 8 years in those without malignant complication.

• #55 Incidence of malignancy in patients with common variable immunodeficiency according to therapeutic delay: an Italian retrospective, monocentric cohort study | Allergy, Asthma & Clinical Immunology | Full Text

  https://aacijournal.biomedcentral.com/articles/10.1186/s13223-020-00451-z

  These results suggest a possible link between the therapeutic delay and tumor incidence. […] The main result of our study is that the median diagnostic delay was longer in patients with malignancy compared to those who had no oncologic complication and similar data were observed for the median therapeutic delay; although a statistical significance was not achieved.

• #56

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  The long-term effects of SARS-CoV-2 infection represent a relevant global health problem. […] In common variable immunodeficiency (CVID) patients, we previously reported higher risk of hospitalization and death during SARS-CoV-2 infection, as well as prolonged swab positivity and frequent reinfections. […] The aim of the present study was to assess the risk of LC in an Italian cohort of CVID patients. […] In conclusion, in this multicenter observational cohort study, we demonstrated that CVID patients present an increased prevalence of LC when compared to the general population. Improved awareness on the risk of LC in CVID patients could optimize management of this new and alarming complication of SARS-CoV-2 infection. […] Higher hospitalization and mortality due to COVID-19 have been reported in this group of patients when compared to the general population in different studies.

• #57

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  Within IEIs, common variable immunodeficiency (CVID) is the most frequent symptomatic disorder in adults. […] Despite the higher susceptibility to infections, studies focusing on their post-acute sequelae in CVID are lacking. […] Thus, these patients could be prone to develop LC, taking into account a potential impaired antibody response and a high prevalence of pre-existing lung damage. […] In our CVID cohort, we found a high prevalence of LC, particularly in those patients with a complicated phenotype. […] To our knowledge, this is the first multicentric retrospective observational cohort study to assess the prevalence and the specific features of LC in patients with CVID. […] In our CVID cohort, prevalence of LC seems to be higher than in the general population (65.7% of the cohort who responded to the survey vs 11% reported in the general adult US population or 10-20% reported by the WHO).

• #58

  https://link.springer.com/article/10.1007/s10875-024-01656-2

  In our cohort, hospitalization during infection tends to have an impact on LC development, even if not reaching statistical significance. […] In the multivariate analysis, considering age, chronic lung disease, SARS-CoV-2 infection features such as severity, duration of infection, and Omicron period, only female sex, obesity, and complicated phenotype were significantly linked to LC in our CVID cohort.

• #59 SciELO Brazil – Common variable immunodeficiency: an important but little-known risk factor for gastric cancer Common variable immunodeficiency: an important but little-known risk factor for gastric cancer

  https://www.scielo.br/j/rcbc/a/QBLVXcFdfqdCkhtZSrtbHWf/

  Among PIDs, Common Variable Immunodeficiency (CVID) is one of the most associated with antibody deficiency. Patients with CVID have an even greater risk of developing GC, which can be up to 10 times higher than the general population. […] The increased risk of GC in patients with CVID varies according to the incidence rate of GC in patients without CVID in the evaluated country. A Scandinavian study estimated an increased risk of 10 times, while an Australian one showed an increased risk of 7.23 times. […] Given the evidence of increased risk of developing GC, it is important that patients with CVID are included in early screening programs. […] Patients with CVID can develop neoplasia 12 to 14 months after an endoscopy without signs of dysplasia. This justifies the proposal to indicate endoscopy for all patients with CVID at the time of diagnosis, repeat it every 24 months in patients with normal histology, every 12 months in patients with atrophic gastritis or intestinal metaplasia, and every six months in patients with dysplasia.

• #60 SciELO Brazil – Common variable immunodeficiency: an important but little-known risk factor for gastric cancer Common variable immunodeficiency: an important but little-known risk factor for gastric cancer

  https://www.scielo.br/j/rcbc/a/QBLVXcFdfqdCkhtZSrtbHWf/

  Among PIDs, Common Variable Immunodeficiency (CVID) is one of the most associated with antibody deficiency. Patients with CVID have an even greater risk of developing GC, which can be up to 10 times higher than the general population. […] The increased risk of GC in patients with CVID varies according to the incidence rate of GC in patients without CVID in the evaluated country. A Scandinavian study estimated an increased risk of 10 times, while an Australian one showed an increased risk of 7.23 times. […] Given the evidence of increased risk of developing GC, it is important that patients with CVID are included in early screening programs. […] Patients with CVID can develop neoplasia 12 to 14 months after an endoscopy without signs of dysplasia. This justifies the proposal to indicate endoscopy for all patients with CVID at the time of diagnosis, repeat it every 24 months in patients with normal histology, every 12 months in patients with atrophic gastritis or intestinal metaplasia, and every six months in patients with dysplasia.

• #61 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  The exact pathological mechanisms of malignancy in CVID are not fully determined; although several mechanisms have been suggested to contribute to the high susceptibility of these patients to specific types of malignancies. […] The higher incidence of cancer in CVID cases has also been explained by genomic instability. […] There are some proposed risk factors for increased of lymphoma in CVID patients, these include chronic infections (such as HHV8, CMV, EBV and H. pylori), persistent inflammatory autoimmune disease, immune dysregulation and radiosensitivity, but their relative contribution and exact mechanism in CVID is still unknown. […] Epidemiological studies have suggested an increased risk of cancers in CVID patients with female gender, cases with higher levels of serum IgM and polyclonal lymphocytic infiltration phenotype.

• #62 Epidemiology and pathophysiology of malignancy in common variable immunodeficiency? | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-epidemiology-pathophysiology-malignancy-in-common-S030105461730037X

  For prevention of malignancy in CVID, the known vulnerability factors contributed to the development of malignancies should be considered in routine follow-up evaluation including H. pylori screening and eradication; monitoring of overgrowth of nitrosamine-producing bacteria due to hypochlorhydria in cases with autoimmune pernicious anaemia; decreasing unnecessary irradiation particularly in cases with defined chromosomal radiosensitivity. […] Not surprisingly, several prognostic studies have shown that CVID patients with cancer phenotype (particularly lymphoid malignancy) had the highest mortality rate (relative risk of 5.5 to infections only phenotype patients).

• #63 Progression of Common Variable Immunodeficiency in Romanian Patients

  https://www.scitechnol.com/peer-review/progression-of-common-variable-immunodeficiency-in-romanian-patients-HNzK.php?article_id=6490

  Scientific medical literature presently includes no characterization of a group of Romanian CVID patients. Only 2 Romanian centers for diagnosis and treatment of CVID have reported their primary immunodeficiency patients to the former ESID registry. Because of the low reporting rate, European studies carried out so far have not analyzed the features of Romanian patients separately by country or by center. […] The main objective of this study is the demographic, immunological and clinical characterization of the CVID patients included in the Immunodeficiencies Registry of the Octavian Fodor Gastroenterology Institute (OFGI), Cluj-Napoca, Romania. Additional objectives are testing for the association of these features with the mode of disease progression and with survival and comparing the features of patients in this cohort with those of the reference cohorts studied previously.

• #64 Progression of Common Variable Immunodeficiency in Romanian Patients

  https://www.scitechnol.com/peer-review/progression-of-common-variable-immunodeficiency-in-romanian-patients-HNzK.php?article_id=6490

  Scientific medical literature presently includes no characterization of a group of Romanian CVID patients. Only 2 Romanian centers for diagnosis and treatment of CVID have reported their primary immunodeficiency patients to the former ESID registry. Because of the low reporting rate, European studies carried out so far have not analyzed the features of Romanian patients separately by country or by center. […] The main objective of this study is the demographic, immunological and clinical characterization of the CVID patients included in the Immunodeficiencies Registry of the Octavian Fodor Gastroenterology Institute (OFGI), Cluj-Napoca, Romania. Additional objectives are testing for the association of these features with the mode of disease progression and with survival and comparing the features of patients in this cohort with those of the reference cohorts studied previously.

• #65

  https://www.jpccr.eu/Common-variable-immunodeficiency-in-an-11-year-old-girl-a-case-report,119859,0,2.html

  Common variable immunodeficiency (CVID) is one of the most prevalent, heterogenous primary immunodeficiency syndromes in children and adults. […] The clinical pictures of CVID includes acute and chronic infections, inflammatory and autoimmune diseases, and can be associated with an increased incidence of cancer and lymphoma. […] Due to the plurality of clinical manifestations and different ages of occurance, diagnosis of CVID is difficult and belated in relation to primary symptoms. […] Patients with CVID require an integrated interprofessional team approach to minimalize complications of the disease and to improve patient outcomes. […] The incidence and prevalence of common variable immunodeficiency disease in Taiwan, a population-based study. […] Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. […] European Society for Immunodeficiencies Registry Working Party: Clinical picture and treatment of 2212 patients with common variable immunodeficiency.

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