Materiały źródłowe

• #1 Clinical manifestations, epidemiology, and diagnosis of common variable immunodeficiency in adults – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-epidemiology-and-diagnosis-of-common-variable-immunodeficiency-in-adults/print

  Common variable immunodeficiency (CVID) is an inborn error of immunity (also called primary immunodeficiency) characterized by impaired B cell differentiation with defective immunoglobulin production. It is the most prevalent form of significant antibody deficiency affecting both children and adults. „Variable” refers to the heterogeneous clinical manifestations of this disorder, which include recurrent infections, chronic lung disease, autoimmune disorders, gastrointestinal disease, and a heightened susceptibility to lymphoma. […] CVID (MIM# 240500) is not a single disease but rather a collection of hypogammaglobulinemia syndromes resulting from many genetic defects. In approximately 25 percent of cases, specific molecular defects have been identified, although, in the majority, the causes are unknown.

• #2 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

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

  Common variable immunodeficiency is a disorder characterized by defective B cell function leading to impaired immunoglobulin production. […] While some researchers have identified some genetic defect, the fundamental cause of CVID has been challenging to determine. […] The main cause of CVID remains unknown despite more than four decades of investigation. It is known that environmental and genetic factors may be involved: approximately, 20% of CVID patients have a first-degree family member with a selective IgA deficiency; while the specific environmental factors are unclear, the genetic influence in CVID is believed to cause an intrinsic B cell defect (CD19-deficiency by mutations in CD19; 16p11.2), an intrinsic T cell defect (ICOS-deficiency by mutations in ICOS; 2q33), and mutations in TNF receptors (TACI-deficiency or BAFFR- deficiency by mutations in TNFRSF13B and TNFRSF13C respectively; 17p11.2 and 22q13.1-q13.31).

• #3 Common Variable Immunodeficiency | Pediatric Research

  https://www.nature.com/articles/pr2009117

  Common variable immunodeficiency is the most prevalent clinically significant antibody deficiency at all ages. […] The biochemical or genetic abnormality in the majority of patients remains unknown. Recently, several molecular genetic lesions have been defined. Among these, mutations of inducible costimulator, and CD19, appear to be disease causing by themselves. These account for about 1% of cases. […] Other mutations or polymorphisms, such as in the human homolog of Escherichia coli MutS 5 (MSH5), and transmembrane activator and calcium mobilizing ligand interactor, seem to be disease associated in 510% of patients, but may require additional immunologic abnormalities for full expression of the phenotype, as unaffected heterozygotes have also been described. […] It may be said that individuals are misdiagnosed with CVID, if they are ultimately found to have a molecular defect associated with a previously defined and distinct primary immunodeficiency syndrome.

• #4 Common Variable Immunodeficiency | Pediatric Research

  https://www.nature.com/articles/pr2009117

  On the other hand, mutations or polymorphisms in several genes not previously associated with primary immunodeficiency have been described in the CVID population, and these patients are said to have CVID (possibly) due to, or associated with, mutations of these genes. They include inducible T-cell costimulator (ICOS), CD19, the human homolog of Escherichia coli MutS 5 (MSH5), and transmembrane activator and calcium mobilizing ligand interactor (TACI), also called tumor necrosis factor receptor superfamily member 13B (TNFRSF13B). […] Between 5 and 10% of patients with CVID are either homozygous or heterozygous for mutations of TACI, whose official designation is tumor necrosis factor receptor superfamily member 13B, or TNFRSF13B. […] However, the pathogenetic role of these (and other) mutations still requires clarification. Some heterozygotes may be asymptomatic. […] Despite the descriptions of molecular defects in subsets of patients with CVID, more than 90% of cases are due to mechanisms that have not yet been described.

• #5 Common variable immunodeficiency – Wikipedia

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

  Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. […] The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. […] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production. […] Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80, and BAFFR have been identified as causative of CVID. […] Susceptibility to CVID may also be linked to the major histocompatibility complex (MHC) of the genome, particularly to DR-DQ haplotypes. […] Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy.

• #6 Common variable immune deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/

  Common variable immune deficiency (CVID) is a disorder that impairs the immune system. […] The cause in CVID is unknown in approximately 90 percent of cases. It is likely that this condition is caused by both environmental and genetic factors. […] While the specific environmental factors are unclear, the genetic influences in CVID are believed to be mutations in genes that are involved in the development and function of immune system cells called B cells. […] In about 10 percent of cases, a genetic cause for CVID is known. […] Mutations in at least 13 genes have been associated with CVID. […] The most frequent mutations occur in the TNFRSF13B gene. […] When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). […] Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies. […] A shortage of these antibodies makes it difficult for people with this disorder to fight off infections. […] Abnormal and deficient immune responses over time likely contribute to the increased cancer risk.

• #7 Common variable immune deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/

  Common variable immune deficiency (CVID) is a disorder that impairs the immune system. […] The cause in CVID is unknown in approximately 90 percent of cases. It is likely that this condition is caused by both environmental and genetic factors. […] While the specific environmental factors are unclear, the genetic influences in CVID are believed to be mutations in genes that are involved in the development and function of immune system cells called B cells. […] In about 10 percent of cases, a genetic cause for CVID is known. […] Mutations in at least 13 genes have been associated with CVID. […] The most frequent mutations occur in the TNFRSF13B gene. […] When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). […] Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies. […] A shortage of these antibodies makes it difficult for people with this disorder to fight off infections. […] Abnormal and deficient immune responses over time likely contribute to the increased cancer risk.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #9 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

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

  Common variable immunodeficiency is a disorder characterized by defective B cell function leading to impaired immunoglobulin production. […] While some researchers have identified some genetic defect, the fundamental cause of CVID has been challenging to determine. […] The main cause of CVID remains unknown despite more than four decades of investigation. It is known that environmental and genetic factors may be involved: approximately, 20% of CVID patients have a first-degree family member with a selective IgA deficiency; while the specific environmental factors are unclear, the genetic influence in CVID is believed to cause an intrinsic B cell defect (CD19-deficiency by mutations in CD19; 16p11.2), an intrinsic T cell defect (ICOS-deficiency by mutations in ICOS; 2q33), and mutations in TNF receptors (TACI-deficiency or BAFFR- deficiency by mutations in TNFRSF13B and TNFRSF13C respectively; 17p11.2 and 22q13.1-q13.31).

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

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

  This genetic heterogeneity which probably mirrors the variable clinical presentation of this disease is further increased by the recent discovery of four candidate genes which were found to be mutated in CVID independently of the results of previous linkage and association studies. […] ICOS (inducible costimulator on activated T cells) was the first gene defect described in patients with CVID and has so far been described in nine individuals from four families, all of whom inherited the same mutation from a common founder. […] TACI deficiency was the second molecular genetic defect found in patients with CVID. […] In about 2% to 3% of CVID patients, both TACI alleles are mutated, causing receptor function loss and ultimately resulting in an antibody deficiency. […] CD19 deficiency is a very rare cause of CVID and, up to now, has only been described in four patients worldwide. […] My colleagues and I were able to identify two cases of homozygous BAFFR deficiency in one single kindred. […] The discovery of additional genes associated with CVID and the mechanisms by which the mutation promotes CVID will be essential for the future diagnosis and treatment of this disease.

• #11 Common variable immunodeficiency – Wikipedia

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

  Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. […] The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. […] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production. […] Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80, and BAFFR have been identified as causative of CVID. […] Susceptibility to CVID may also be linked to the major histocompatibility complex (MHC) of the genome, particularly to DR-DQ haplotypes. […] Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy.

• #12 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder characterised by impaired antibody production, leading to recurrent infections and an increased susceptibility to viral pathogens. […] The pathogenesis of CVID involves complex immunological dysregulation, including defects in B cell development, antibody class switching, and plasma cell differentiation. […] Genetic factors play a prominent role in CVID, and monogenic drivers of CVID-like disease are increasingly identified through advanced genomic studies. […] Historically, only 2–10% of CVID cases have had a recognised monogenic aetiology, with the rest either undiscovered or driven by oligogenic/polygenic mechanisms. […] However, the advent and increased availability of more sophisticated genetic analysis has accelerated the discovery of new rare genetic variants, with recent papers identifying a monogenic cause in approximately 20–50% of CVID cases.

• #13 Common variable immunodeficiency – Wikipedia

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

  Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. […] The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. […] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production. […] Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80, and BAFFR have been identified as causative of CVID. […] Susceptibility to CVID may also be linked to the major histocompatibility complex (MHC) of the genome, particularly to DR-DQ haplotypes. […] Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #15 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

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

  Other monogenic defects reported include MSH5, CD81, and CD20 deficiencies; however, CVID can be present without a known genetic defect. […] There is no observable, clear pattern of inheritance. Different modes of inheritance, such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms, have been reported.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #17 Common variable immune deficiency disorders – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/common-variable-immune-deficiency-disorders/

  This is a complex group of patients. We know of some genes that can cause CVID but for the vast majority of patients the cause is not known. About 90% of CVID are caused by sporadic genetic changes. […] Genetics are only part of the answer. For many complex diseases the genes we inherit can predispose us to a disorder, but the environment we live in and how genes are switched on and off affect when and how severely we are affected. […] It seems likely that you both have the same genetic predisposition. We know that having the mutation doesn’t necessarily mean you will get a disease (called variable penetrance) and that there may be ‘modifiers’ that may or not come into play that trigger CVID either early, as in your brother’s case, or later in life.

• #18 Common Variable Immunodeficiency – StatPearls – NCBI Bookshelf

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

  Other monogenic defects reported include MSH5, CD81, and CD20 deficiencies; however, CVID can be present without a known genetic defect. […] There is no observable, clear pattern of inheritance. Different modes of inheritance, such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms, have been reported.

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

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

  Exact cause unknown. Most cases are sporadic. Genetic mutations account for 10% of cases; however, a monogenic cause cannot be established in the majority of cases. Linked to mutations in genes that encode cell surface proteins, cytokine receptors, and major histocompatibility complex. Familial inheritance accounts for 10%-25%. X-linked, autosomal dominant, and recessive patterns have been documented. […] The underlying causes of CVID are largely unknown.

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

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

  An autosomal recessive pattern of inheritance is suggested when more than one family member is affected. […] CVID is associated with the use of antirheumatic or antiepileptic drugs. If such an association is later proven to be a causal relationship, the genetic etiology may turn out to be a genetic predisposition to the disease. A common insult to the B-cell differentiation pathway may be involved.

• #21 Content – Health Encyclopedia – University of Rochester Medical Center

  https://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=90&contentid=P01680

  Common variable immunodeficiency (CVID) is an immunodeficiency problem that causes a child to have a low level of antibodies and a decreased responsiveness to some vaccines. […] Experts don’t know what causes CVID. The disorder causes a decrease in the number of immunoglobulins (antibodies) in the child who has it. […] The only known risk factor for CVID is a family history of the problem. […] Infections, and the results of those infections, are the greatest complication of CVID.

• #22 Common Variable Immunodeficiency in Children

  https://myhealth.umassmemorial.org/YourFamily/Children/90,P01680

  Common variable immunodeficiency (CVID) is an immunodeficiency problem that causes a child to have a low level of antibodies and a decreased responsiveness to some vaccines. […] Experts don’t know what causes CVID. The disorder causes a decrease in the number of immunoglobulins (antibodies) in the child who has it. […] The only known risk factor for CVID is a family history of the problem.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #24 Common Variable Immunodeficiency (CVID) | NIAID: National Institute of Allergy and Infectious Diseases

  https://www.niaid.nih.gov/diseases-conditions/common-variable-immunodeficiency-cvid

  CVID is caused by a variety of different genetic abnormalities that result in a defect in the capability of immune cells to produce normal amounts of all types of antibodies. […] Only a few of these defects have been identified, and the cause of most cases of CVID is unknown. […] Many people with CVID carry a DNA variation called a polymorphism in a gene known as TACI. However, while this genetic abnormality confers increased risk of developing CVID, it alone is not capable of causing CVID. […] CVID is also linked to IgA deficiency, a related condition in which only the level of the antibody immunoglobulin A (IgA) is low, while levels of other antibody types are usually normal or near normal.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #26 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  In monogenic CVID, single gene mutations may cause specific disruption of B-cell development or function, affecting isotype switching, somatic hypermutation, or B-cell survival. […] Overall, a wide variety of immunological defects have been identified, including irregularities of T-cell numbers/function, Toll-like receptor (TLR) signalling, innate immune responses, dendritic cell (DC) function, thymic maturation and natural killer (NK) cell deficiencies. […] Due to its wide heterogeneity, there are increasing efforts to classify CVID cases into clinical subgroups as determined by the immunophenotypic profile. […] Individuals with CVID have a high recognised prevalence of lymphoproliferative disease (17–26%), lymphoma (2–8%), and increased incidence of malignancies including skin cancers, gastric cancers, and leukaemia.

• #27 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=Chronic%2C+Pain%2C+Treatment

  Common variable immunodeficiency is the most common clinically important primary immunodeficiency syndrome, characterized by […] The primary immunologic defect(s) leading to this syndrome is unknown. […] Multiple defects have been associated with common variable immunodeficiency, including the following: Lack of somatic mutation within variable region genes, Lack of memory B cells, Impaired maturation, IL-12 secretion, and upregulation of costimulatory molecules by antigen-presenting cells may impair T cells, which are important for providing help to B cells for antibody production. […] Some genetic defects have been described but do not account for the majority of cases.

• #28 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. […] Thus, the etiology of CVID is believed to be multifactorial and still holds many unanswered questions. […] CVID pathogenesis has been attributed to defects in T cells and their subsets, antigen presenting cells, and B cells. […] Despite convincing evidence that alterations of T cell function and subset distribution are associated with the CVID phenotype, recent research points to the impaired terminal differentiation of B lymphocytes as the hallmark of the disease. […] Candidate loci for CVID have now been demonstrated at the HLA region on chromosome 6, chromosome 4q, and chromosome 16q.

• #29 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=Chronic%2C+Pain%2C+Treatment

  Common variable immunodeficiency is the most common clinically important primary immunodeficiency syndrome, characterized by […] The primary immunologic defect(s) leading to this syndrome is unknown. […] Multiple defects have been associated with common variable immunodeficiency, including the following: Lack of somatic mutation within variable region genes, Lack of memory B cells, Impaired maturation, IL-12 secretion, and upregulation of costimulatory molecules by antigen-presenting cells may impair T cells, which are important for providing help to B cells for antibody production. […] Some genetic defects have been described but do not account for the majority of cases.

• #30 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  In monogenic CVID, single gene mutations may cause specific disruption of B-cell development or function, affecting isotype switching, somatic hypermutation, or B-cell survival. […] Overall, a wide variety of immunological defects have been identified, including irregularities of T-cell numbers/function, Toll-like receptor (TLR) signalling, innate immune responses, dendritic cell (DC) function, thymic maturation and natural killer (NK) cell deficiencies. […] Due to its wide heterogeneity, there are increasing efforts to classify CVID cases into clinical subgroups as determined by the immunophenotypic profile. […] Individuals with CVID have a high recognised prevalence of lymphoproliferative disease (17–26%), lymphoma (2–8%), and increased incidence of malignancies including skin cancers, gastric cancers, and leukaemia.

• #31 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=Chronic%2C+Pain%2C+Treatment

  Common variable immunodeficiency is the most common clinically important primary immunodeficiency syndrome, characterized by […] The primary immunologic defect(s) leading to this syndrome is unknown. […] Multiple defects have been associated with common variable immunodeficiency, including the following: Lack of somatic mutation within variable region genes, Lack of memory B cells, Impaired maturation, IL-12 secretion, and upregulation of costimulatory molecules by antigen-presenting cells may impair T cells, which are important for providing help to B cells for antibody production. […] Some genetic defects have been described but do not account for the majority of cases.

• #32 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  In monogenic CVID, single gene mutations may cause specific disruption of B-cell development or function, affecting isotype switching, somatic hypermutation, or B-cell survival. […] Overall, a wide variety of immunological defects have been identified, including irregularities of T-cell numbers/function, Toll-like receptor (TLR) signalling, innate immune responses, dendritic cell (DC) function, thymic maturation and natural killer (NK) cell deficiencies. […] Due to its wide heterogeneity, there are increasing efforts to classify CVID cases into clinical subgroups as determined by the immunophenotypic profile. […] Individuals with CVID have a high recognised prevalence of lymphoproliferative disease (17–26%), lymphoma (2–8%), and increased incidence of malignancies including skin cancers, gastric cancers, and leukaemia.

• #33 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  In monogenic CVID, single gene mutations may cause specific disruption of B-cell development or function, affecting isotype switching, somatic hypermutation, or B-cell survival. […] Overall, a wide variety of immunological defects have been identified, including irregularities of T-cell numbers/function, Toll-like receptor (TLR) signalling, innate immune responses, dendritic cell (DC) function, thymic maturation and natural killer (NK) cell deficiencies. […] Due to its wide heterogeneity, there are increasing efforts to classify CVID cases into clinical subgroups as determined by the immunophenotypic profile. […] Individuals with CVID have a high recognised prevalence of lymphoproliferative disease (17–26%), lymphoma (2–8%), and increased incidence of malignancies including skin cancers, gastric cancers, and leukaemia.

• #34 What Is Common Variable Immunodeficiency (CVID)?

  https://www.webmd.com/a-to-z-guides/what-is-common-variable-immunodeficiency-cvid

  Common variable immunodeficiency (CVID) is a type of genetic condition called primary immunodeficiency disease (PIDD) that causes low levels of antibodies (protective proteins) in your body. […] Doctors arent exactly sure what causes most CVID cases. But for 1 in 10 people with CVID, the cause can be pinpointed to a hereditary genetic mutation in your DNA. This means its passed down from your family members. […] You can also get CVID if you have genetic defects in your immune system. This means there might be added or missing information in your DNA. The defects can cause your immune system to produce very low levels of antibodies in your blood called immunoglobulins and immunoglobulin G (IgG) the proteins that help your body fight infections. […] You can also develop CVID later in your life.

• #35 Common variable immune deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/

  Common variable immune deficiency (CVID) is a disorder that impairs the immune system. […] The cause in CVID is unknown in approximately 90 percent of cases. It is likely that this condition is caused by both environmental and genetic factors. […] While the specific environmental factors are unclear, the genetic influences in CVID are believed to be mutations in genes that are involved in the development and function of immune system cells called B cells. […] In about 10 percent of cases, a genetic cause for CVID is known. […] Mutations in at least 13 genes have been associated with CVID. […] The most frequent mutations occur in the TNFRSF13B gene. […] When B cells mature, they produce special proteins called antibodies (also known as immunoglobulins). […] Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies. […] A shortage of these antibodies makes it difficult for people with this disorder to fight off infections. […] Abnormal and deficient immune responses over time likely contribute to the increased cancer risk.

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

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

  The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. […] Genetic factors may be involved. In approximately 20% of patients with CVID, a first-degree family member has a selective IgA deficiency. This finding may indicate that the genes are linked. […] When more than one family member is affected with CVID, approximately 5% of the patients have a concurrent IgA deficiency. […] Further results reveal specific localization to the C4A gene and, rarely, to the C2 gene in the class III region of the major histocompatibility complex on chromosome 6. […] No clear pattern of inheritance has been observed. Because most patients represent sporadic cases and because they have no family history of immunodeficiency, different modes of inheritance such as autosomal dominant with variable penetrance, autosomal recessive, and X-linked forms have been reported.

• #37 Common variable immunodeficiency – Wikipedia

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

  Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. […] The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. […] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production. […] Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80, and BAFFR have been identified as causative of CVID. […] Susceptibility to CVID may also be linked to the major histocompatibility complex (MHC) of the genome, particularly to DR-DQ haplotypes. […] Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy.

• #38 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. […] Thus, the etiology of CVID is believed to be multifactorial and still holds many unanswered questions. […] CVID pathogenesis has been attributed to defects in T cells and their subsets, antigen presenting cells, and B cells. […] Despite convincing evidence that alterations of T cell function and subset distribution are associated with the CVID phenotype, recent research points to the impaired terminal differentiation of B lymphocytes as the hallmark of the disease. […] Candidate loci for CVID have now been demonstrated at the HLA region on chromosome 6, chromosome 4q, and chromosome 16q.

• #39 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. […] Thus, the etiology of CVID is believed to be multifactorial and still holds many unanswered questions. […] CVID pathogenesis has been attributed to defects in T cells and their subsets, antigen presenting cells, and B cells. […] Despite convincing evidence that alterations of T cell function and subset distribution are associated with the CVID phenotype, recent research points to the impaired terminal differentiation of B lymphocytes as the hallmark of the disease. […] Candidate loci for CVID have now been demonstrated at the HLA region on chromosome 6, chromosome 4q, and chromosome 16q.

• #40 Clinical and immunological features of 44 common variable immunodeficiency patients: the experience of a single center in Turkey | Allergologia et Immunopathologia

  https://www.elsevier.es/en-revista-allergologia-et-immunopathologia-105-articulo-clinical-immunological-features-44-common-S030105462030032X

  Common variable immunodeficiency (CVID) is one of the most prevalent forms of primary immunodeficiency characterized by hypogammaglobinemia. […] Although several genes are thought to cause this disease the exact genetic cause remains unknown, and most cases of CVID are sporadic. […] CVID is a heterogeneous group of immunologic disorders with unknown etiology. […] There are significant differences in the clinical presentation and prevalence of CVID-related complications among countries.

• #41 Common Variable Immunodeficiency (CVID): Cause & Treatment

  https://my.clevelandclinic.org/health/diseases/21143-common-variable-immunodeficiency-cvid

  Common variable immunodeficiency (CVID) is a group of genetic diseases where your immune cells dont make antibodies. […] Genetic variations (changes in your DNA, the instructions that make your body work) cause CVID. No single change causes CVID many different gene changes are associated with it and experts think it takes more than one change to cause CVID. The most commonly found mutations are in the TNFRSF13B gene. […] The gene variations that lead to CVID are inherited in about 10% of cases. Experts dont know what causes them in the other 90% of people with CVID. They think epigenetic changes (changes in the way your body interprets DNA, caused by environmental or lifestyle factors) could contribute to developing CVID. But researchers need more studies to understand this theory better.

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

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

  An autosomal recessive pattern of inheritance is suggested when more than one family member is affected. […] CVID is associated with the use of antirheumatic or antiepileptic drugs. If such an association is later proven to be a causal relationship, the genetic etiology may turn out to be a genetic predisposition to the disease. A common insult to the B-cell differentiation pathway may be involved.

• #43 Common Variable Immunodeficiency (CVID): Comprehensive Guide

  https://www.rupahealth.com/post/common-variable-immunodeficiency-cvid-comprehensive-guide

  Some individuals have mutations in genes such as TNFRSF13B (TACI), ICOS, CD19, and BAFFR, which affect the immune system’s ability to produce and regulate antibodies. […] However, genetic testing does not always confirm a definitive cause, and many cases remain unexplained. […] While genetics play a key role, environmental factors can influence immune function and may contribute to the onset of CVID. Chronic viral infections, exposure to certain toxins, and prolonged immune system stress may weaken immune defenses over time. […] Scientists continue to investigate how these factors interact to understand better why CVID develops and how it can be managed effectively.

• #44 Common variable immunodeficiency – Wikipedia

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

  Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. […] The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10-25% of cases. […] Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in antibody production. […] Mutations in the genes encoding ICOS, TACI, CD19, CD20, CD21, CD80, and BAFFR have been identified as causative of CVID. […] Susceptibility to CVID may also be linked to the major histocompatibility complex (MHC) of the genome, particularly to DR-DQ haplotypes. […] Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy.

• #45 Common Variable Immunodeficiency: Demystifying the Decades-Old Immune Disorder

  https://ameripharmaspecialty.com/other-health-conditions/common-variable-immunodeficiency-demystifying-the-decades-old-immune-disorder/

  Common variable immunodeficiency (CVID) is an umbrella term for immune disorders that cause low levels of infection-fighting proteins called immunoglobulins. As a result, people with CVID are more likely to experience frequent infections of the ears, sinuses, lungs, and digestive tract. […] In about 90% of cases, researchers are not certain what exactly causes CVID. They believe both environmental and genetic factors may be responsible. […] Genetic changes (mutations) that cause CVID may be passed down from parents to children. In other cases, they may occur randomly or after exposure to triggers. Potential triggers include UV radiation and viral infections. […] Mutations in the genes that regulate B cell function are likely the culprit. B cells are specialized white blood cells; they produce immunoglobulins or antibodies. People with CVID have enough B cells, but these cells do not make enough antibodies.

• #46 Common variable immune deficiency disorders – Immunodeficiency UKAccessibilityIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://www.immunodeficiencyuk.org/common-variable-immune-deficiency-disorders/

  This is a complex group of patients. We know of some genes that can cause CVID but for the vast majority of patients the cause is not known. About 90% of CVID are caused by sporadic genetic changes. […] Genetics are only part of the answer. For many complex diseases the genes we inherit can predispose us to a disorder, but the environment we live in and how genes are switched on and off affect when and how severely we are affected. […] It seems likely that you both have the same genetic predisposition. We know that having the mutation doesn’t necessarily mean you will get a disease (called variable penetrance) and that there may be ‘modifiers’ that may or not come into play that trigger CVID either early, as in your brother’s case, or later in life.

• #47 Common Variable Immunodeficiency Clinical Presentation: History, Physical Examination, Complications

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

  Five distinct clinical phenotypes have been delineated for common variable immunodeficiency (CVID): no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy. […] Infectious and autoimmune etiologies are the most likely causes for severe chronic diarrhea. […] As many as 20% of patients with CVID develop autoimmune complications. […] Gastrointestinal diseases include pernicious anemia, a spruelike malabsorption disorder, autoimmune hepatitis, primary biliary cirrhosis, intestinal nodular lymphoid hyperplasia, atrophic gastritis, aphthous stomatitis, and inflammatory bowel disease. […] In patients with CVID, the risk of certain malignancies is high. […] Malignancy is most likely associated with the Epstein-Barr virus. […] The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals.

• #48 Common Variable Immunodeficiency Clinical Presentation: History, Physical Examination, Complications

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

  Five distinct clinical phenotypes have been delineated for common variable immunodeficiency (CVID): no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy. […] Infectious and autoimmune etiologies are the most likely causes for severe chronic diarrhea. […] As many as 20% of patients with CVID develop autoimmune complications. […] Gastrointestinal diseases include pernicious anemia, a spruelike malabsorption disorder, autoimmune hepatitis, primary biliary cirrhosis, intestinal nodular lymphoid hyperplasia, atrophic gastritis, aphthous stomatitis, and inflammatory bowel disease. […] In patients with CVID, the risk of certain malignancies is high. […] Malignancy is most likely associated with the Epstein-Barr virus. […] The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals.

• #49 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), previously known as adult-onset hypogammaglobulinemia, is one of the most frequently diagnosed primary immunodeficiencies. It is characterized by low levels of serum antibodies, which cause an increased susceptibility to infection. […] The genetic causes of CVID are largely unknown, although recent studies have shown the involvement of an increasing number of genes in select people. These include genes that regulate immune functions, B cell surface proteins that help cells signal properly when a foreign substance is identified, and genes important in B cells activation. […] Although people with CVID have depressed antibody responses and low levels of immunoglobulins in their blood, some of the antibodies they produce may attack their own tissues (autoantibodies).

• #50 Common Variable Immunodeficiency Clinical Presentation: History, Physical Examination, Complications

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

  Five distinct clinical phenotypes have been delineated for common variable immunodeficiency (CVID): no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy. […] Infectious and autoimmune etiologies are the most likely causes for severe chronic diarrhea. […] As many as 20% of patients with CVID develop autoimmune complications. […] Gastrointestinal diseases include pernicious anemia, a spruelike malabsorption disorder, autoimmune hepatitis, primary biliary cirrhosis, intestinal nodular lymphoid hyperplasia, atrophic gastritis, aphthous stomatitis, and inflammatory bowel disease. […] In patients with CVID, the risk of certain malignancies is high. […] Malignancy is most likely associated with the Epstein-Barr virus. […] The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals.

• #51 Common Variable Immunodeficiency Clinical Presentation: History, Physical Examination, Complications

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

  The increased incidence of malignancy in patients with CVID is well known. […] Factors associated with mortality include low levels of IgG, poor T-cell responses to antigens, and a low percentage of peripheral B cells. […] Other complications include chronic sinusitis, severe autoimmune thrombocytopenia, and hemolytic anemia.

• #52

  https://journals.lww.com/hepcomm/fulltext/2024/01010/common_variable_immunodeficiency_disorder_related.4.aspx

  Common variable immunodeficiency disorder (CVID) manifests with recurrent infections and inflammatory complications, including liver disease. […] Varied patterns of liver disease are observed in CVID; historically, viral hepatitis was a leading cause, although with blood product screening and effective treatments this is now much diminished. Other patterns of liver disease include sclerosing cholangitis, primary biliary cholangitis or autoimmune hepatitis-like conditions, granulomatous hepatitis, and nodular regenerative hyperplasia-like changes (NRH-LCs). […] Prevalence estimates for nonviral liver disease in CVID (hereby termed CVID-related liver disease (CVID-rLD) range from 5% to 79%, reflecting the differing cohorts studied, definitions of liver disease, and approaches to screening.

• #53 Common Variable Immunodeficiency Clinical Presentation: History, Physical Examination, Complications

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

  Five distinct clinical phenotypes have been delineated for common variable immunodeficiency (CVID): no complications, autoimmunity, polyclonal lymphocytic infiltration, enteropathy, and lymphoid malignancy. […] Infectious and autoimmune etiologies are the most likely causes for severe chronic diarrhea. […] As many as 20% of patients with CVID develop autoimmune complications. […] Gastrointestinal diseases include pernicious anemia, a spruelike malabsorption disorder, autoimmune hepatitis, primary biliary cirrhosis, intestinal nodular lymphoid hyperplasia, atrophic gastritis, aphthous stomatitis, and inflammatory bowel disease. […] In patients with CVID, the risk of certain malignancies is high. […] Malignancy is most likely associated with the Epstein-Barr virus. […] The risk of gastric carcinoma is almost 50 times greater in patients with CVID than in other individuals.

• #54 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), previously known as adult-onset hypogammaglobulinemia, is one of the most frequently diagnosed primary immunodeficiencies. It is characterized by low levels of serum antibodies, which cause an increased susceptibility to infection. […] The genetic causes of CVID are largely unknown, although recent studies have shown the involvement of an increasing number of genes in select people. These include genes that regulate immune functions, B cell surface proteins that help cells signal properly when a foreign substance is identified, and genes important in B cells activation. […] Although people with CVID have depressed antibody responses and low levels of immunoglobulins in their blood, some of the antibodies they produce may attack their own tissues (autoantibodies).

• #55 The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0941-0

  Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. […] CVID is typically characterized by significantly decreased levels of IgG, in combination with decreased IgA and/or IgM, poor vaccine response, and increased susceptibility to bacterial infections. […] CVID is associated with high comorbidity and increased mortality. […] The most common causes of death in CVID are reported to be respiratory failure from chronic lung disease, lymphomas and other cancers. […] The burden of more than 300 conditions worldwide has been quantified by the GBD project, however, the burden of many rare diseases remains unknown. […] Poorer survival in CVID was associated with the prevalence of solid tumor, lymphoma and GLILD, showing consistency with the results of some large cohort studies.

• #56 The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0941-0

  Each year of increase in diagnostic delay was associated with an increase of the risk of death by 4%, bronchiectasis by 3%, solid tumor by 8% and enteropathy by 2%. […] The mortality rate was four times higher in patients with parental consanguinity, suggesting unidentified autosomal recessive disease underlying the CVID-classification in these patients.

• #57 The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0941-0

  Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. […] CVID is typically characterized by significantly decreased levels of IgG, in combination with decreased IgA and/or IgM, poor vaccine response, and increased susceptibility to bacterial infections. […] CVID is associated with high comorbidity and increased mortality. […] The most common causes of death in CVID are reported to be respiratory failure from chronic lung disease, lymphomas and other cancers. […] The burden of more than 300 conditions worldwide has been quantified by the GBD project, however, the burden of many rare diseases remains unknown. […] Poorer survival in CVID was associated with the prevalence of solid tumor, lymphoma and GLILD, showing consistency with the results of some large cohort studies.

• #58 The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0941-0

  Each year of increase in diagnostic delay was associated with an increase of the risk of death by 4%, bronchiectasis by 3%, solid tumor by 8% and enteropathy by 2%. […] The mortality rate was four times higher in patients with parental consanguinity, suggesting unidentified autosomal recessive disease underlying the CVID-classification in these patients.

• #59 Common Variable Immunodeficiency – The Rheumatologist

  https://www.the-rheumatologist.org/article/common-variable-immunodeficiency/

  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. […] Thus, the etiology of CVID is believed to be multifactorial and still holds many unanswered questions. […] The classic presentation includes frequent bacterial infections, secondary to dysfunctional B cell differentiation, impaired immunoglobulin production and diminished antibody response.

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

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

  This genetic heterogeneity which probably mirrors the variable clinical presentation of this disease is further increased by the recent discovery of four candidate genes which were found to be mutated in CVID independently of the results of previous linkage and association studies. […] ICOS (inducible costimulator on activated T cells) was the first gene defect described in patients with CVID and has so far been described in nine individuals from four families, all of whom inherited the same mutation from a common founder. […] TACI deficiency was the second molecular genetic defect found in patients with CVID. […] In about 2% to 3% of CVID patients, both TACI alleles are mutated, causing receptor function loss and ultimately resulting in an antibody deficiency. […] CD19 deficiency is a very rare cause of CVID and, up to now, has only been described in four patients worldwide. […] My colleagues and I were able to identify two cases of homozygous BAFFR deficiency in one single kindred. […] The discovery of additional genes associated with CVID and the mechanisms by which the mutation promotes CVID will be essential for the future diagnosis and treatment of this disease.

• #61 The Scope and Impact of Viral Infections in Common Variable Immunodeficiency (CVID) and CVID-like Disorders: A Literature Review

  https://www.mdpi.com/2077-0383/13/6/1717

  Common variable immunodeficiency (CVID) is a heterogeneous primary immunodeficiency disorder characterised by impaired antibody production, leading to recurrent infections and an increased susceptibility to viral pathogens. […] The pathogenesis of CVID involves complex immunological dysregulation, including defects in B cell development, antibody class switching, and plasma cell differentiation. […] Genetic factors play a prominent role in CVID, and monogenic drivers of CVID-like disease are increasingly identified through advanced genomic studies. […] Historically, only 2–10% of CVID cases have had a recognised monogenic aetiology, with the rest either undiscovered or driven by oligogenic/polygenic mechanisms. […] However, the advent and increased availability of more sophisticated genetic analysis has accelerated the discovery of new rare genetic variants, with recent papers identifying a monogenic cause in approximately 20–50% of CVID cases.

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