Materiały źródłowe

• #1

  https://indianpediatrics.net/june2013/june-579-586.htm

  Primary immunodeficiency disorders (PIDs) are a heterogeneous group of inherited disorders that affect different components of the immune system. […] Despite major advances in the molecular characterization of PIDs over the last 20 years, many patients remain undiagnosed or are diagnosed too late with severe consequences. […] Prompt and accurate diagnosis of PID not only helps to direct the most appropriate treatment, and predict prognosis, but also it is important for further genetic counseling for the family. […] Immunoglobulin replacement and judicious use of prophylactic antibiotics can prevent the significant end organ damage and improve long-term outcome and quality of life in many patients with PID if diagnosed early. […] Thus it is important to recognize children with PID before significant end organ damage occurs to maximize the opportunity for successful treatment and a normal lifespan.

• #2 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  One in 2,000 children younger than 18 years is thought to have a primary immunodeficiency disease. […] A family history of primary immunodeficiency disease is the strongest predictor of a person having this type of disease. […] More than 180 primary immunodeficiency diseases have been identified, and that number is growing as advances in genetic technology allow for further identification of specific defects of immunity. […] The overall incidence in the United States is 10.3 per 100,000 person-years; the median interval from onset of symptoms to diagnosis is 2.7 years. […] The most common presentations of a primary immunodeficiency disease in children are recurrent ear, sinus, and pulmonary infections; diarrhea; and failure to thrive. […] A detailed evaluation from the United Kingdom found that the three most helpful warning signs for primary immunodeficiency disease were a positive family history, a diagnosis of sepsis treated with intravenous antibiotics, and failure to thrive.

• #3 Clinical Predictors of Primary Immunodeficiency Diseases in Children

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3579097/

  To promote awareness of primary immunodeficiency (PID), the „10 warning signs” of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not sufficiently evaluated in clinical practice. […] The strongest predictor of PID was family history that, if combined with the need for intravenous antibiotics, recurrent deep-seated infections, and failure to thrive, could identify 81% of PID patients. […] The 10 warning signs and IDR score do not aid in an early diagnosis of severe PID. Educational campaigns should target pediatricians aiming to increase PID awareness and to address family history of PID, parental consanguinity, and previous sibling death as key predictors of PID in communities with a high prevalence of consanguineous marriages.

• #4 Clinical Predictors of Primary Immunodeficiency Diseases in Children

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3579097/

  The present study clearly demonstrates that PID diseases are underdiagnosed in Egypt. […] The overall evaluation of the 10 warning signs revealed that at least two warning signs should be fulfilled to identify nearly two-thirds of PID cases. […] The strongest predictors of PID in our cohort were a positive family history of PID, parental consanguinity, and previous sibling death from infection. […] A high index of suspicion is still the mainstay for detecting PID. Negative scoring of either the 10 warning signs or the IDR score must not exclude PID diagnosis if clinically suspected, and early referral to a specialized center should be considered.

• #5 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  Many primary immunodeficiency diseases are hereditary. […] A child with recurrent serious infections who has a positive family history of these types of diseases or who is from an ethnicity associated with higher parental consanguinity should be screened for an immunodeficiency disease. […] An immunodeficiency should be considered if a child’s infections increase in frequency or become more severe as he or she gets older. […] Recurrent, serious infections with common pathogens may be a sign of an immunodeficiency disease. […] A basic laboratory workup that includes testing for human immunodeficiency virus (HIV) antibody, complete blood count with differential, and measurement of serum immunoglobulin and complement levels can identify children who need further testing and referral to a subspecialist for a suspected immunodeficiency disease.

• #6 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

  A cut-off of VISUAL 10 properly discriminated CVID patients with severe outcome (Cluster B). […] Patients at diagnosis of CVID with VISUAL10 (p30 of severity score) associated 8.94-fold higher odds of severe clinical prognosis with respect to VISUAL below this threshold (p=0.001). […] The relationship between patient age and development of complications (progression to Cluster B of severity) was assessed by KaplanMeier estimates for the VISUAL score. CVID patients with VISUAL10 points progressed to Cluster B faster than those with VISUAL10 (P=0.0002). […] 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. […] In conclusion, the VISUAL prognostic score might allow to predict and thus better establish a more appropriate follow-up requirement for each individual patients and to complement existing approaches forwards a more personalized care. Further studies are needed to prospectively validate VISUAL score.

• #7 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 broad and heterogeneous clinical spectrum that characterizes common variable immunodeficiency (CVID) is associated with quite different disease course and prognosis, highlighting the need to develop tools that predict complications. […] VISUAL score at CVID diagnosis showed adequate performance for predicting infectious and non-infectious severe complications (Cluster B). […] At diagnosis of CVID, VISUAL score10 showed 8.94-fold higher odds of severe prognosis than below this threshold. […] This prognostic laboratory score might allow close monitoring and more aggressive treatment in patients with scores10 on a personalized basis approach. […] 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%.

• #8

  https://link.springer.com/article/10.1007/s10875-024-01818-2

  Distinguishing between primary (PID) and secondary (SID) immunodeficiencies, particularly in relation to hematological B-cell lymphoproliferative disorders (B-CLPD), poses a major clinical challenge. […] Identifying significant clinical and immunological variables can aid in the difficult task of recognizing late-onset PIDs among SID patients, emphasizing the value of a comprehensive immunological evaluation. […] The differences between Suspected PID and SID groups highlight the need of early, tailored diagnostic and treatment strategies for personalized patient management and follow up. […] Identifying biomarkers capable of distinguishing PIDs from genuine SIDs in patients with B-CLPD is crucial for enhancing diagnosis, treatment, and prognosis. […] Our hypothesis was not simply to confirm the resemblance of SID to PID, which can be expected due to immune deficiencies caused by therapy or underlying cancer. Instead, we aimed to identify which SID cases may actually be undiagnosed PID cases.

• #9

  https://link.springer.com/article/10.1007/s10875-024-01818-2

  The predictive performance of the tree decision model, which was the best predictive model to discriminate between the two groups, achieved the highest accuracy of 91.8%, sensitivity of 89.5%, and specificity of 100%, with positive predictive value of 100%. […] This high degree of accuracy underscores the model’s utility in identifying PID at the onset of B-CLPD. […] Overall, the decision tree models insights into the variables that discriminate among Group PID, and Group SID highlight the complexity of the cohorts health profiles and the need for detailed analysis at time of lymphoproliferative diagnosis to support effective patient diagnosis, treatment and, hopefully, aid in their prognosis.

• #10 Outcome Prediction in Mathematical Models of Immune Response to Infection | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0135861

  Clinicians need to predict patient outcomes with high accuracy as early as possible after disease inception. […] We find that the prediction accuracy of the outcomes decreases strongly with increasing patient variability. […] Our results emphasize that even when the complete state of the system is known (i.e. all patient variables are measured precisely as a function of time), we have limited knowledge of the patient outcome when there is patient-to-patient variability that gives rise to basin overlap. […] As tc increases, the systems move closer to their steady-state outcomes and the basins of attraction separate, which increases the prediction accuracy. […] In our work, we explicitly show that patient-to-patient fluctuations cause a competition between early and accurate outcome prediction.

• #11 Evaluation of Primary Immunodeficiency Disease in Children | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0601/p773.html

  In 2010, the U.S. Department of Health and Human Services recommended routine screening for SCID in newborns. […] Although SCID is rare, early identification and treatment with hematopoietic stem cell transplantation can prevent infant deaths. […] The survival rate is 94% if transplantation is performed in the first three-and-a-half months of life, but drops to 70% if transplantation occurs later than that.

• #12 Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients | medRxiv

  https://www.medrxiv.org/content/10.1101/2025.02.20.25322586v1.full-text

  We detected a steep early decline in survival in many IE categories while curves plateaued, i, methodologically, in some where definitive treatments exist, or, ii, in genotypes with variable penetrance (e.g., CID, PIRD). […] Additionally, while patients with PAD showed a continuous decline in survival probability from a young age across all age groups, the decline in the survival of patients with phagocyte and innate immune disorders showed an initial drop. […] This finding suggests that a proportion of patients are at very high risk during their first five years of life. […] The steep early decline in survival we observed in patients with disorders of immune regulation and innate IEI may argue for an extension of NBS to other immediately life-threatening IEI.

• #13 Inborn errors of immunity: manifestation, treatment, and outcome – an ESID registry 1994-2024 report on 30,628 patients | medRxiv

  https://www.medrxiv.org/content/10.1101/2025.02.20.25322586v1.full-text

  The European Society for Immunodeficiencies patient registry (ESID-R), established in 1994, is one of the worlds largest databases on inborn errors of immunity (IEI). […] Early declining survival probabilities for many IEI subcategories suggest expanding newborn screening beyond severe combined immune deficiencies. […] This report highlights the key role of the multi-national ESID-R, led by an independent medical society, in evidence-based discovery. […] The present analysis illustrates the current distribution of: i) IEI diagnoses recorded in contributing centers and countries, ii) major treatment modalities between all IEI categories, iii), ages at onset, at clinical and at genetic diagnosis and iv) survival probabilities. […] We hypothesized that the survival probabilities of patients in the 10 IUIS categories of IEI differed due to their varying predispositions to life-threatening infections, malignancies, autoimmunity, or other manifestations and complications associated with their underlying conditions.

• #14 Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021

  https://www.mdpi.com/2077-0383/12/10/3516

  Severe COVID-19 outcomes, including hospitalization, IMV, ICU admission, and death, were more frequent in PI patients than in non-PI patients seen in emergency departments. […] Hospitalization, ICU admission, IMV, and death had higher odds in PI patients than in non-PI patients (hospitalization aOR: 2.36, 95% CI: 1.87–2.98; ICU admission aOR: 1.53, 95% CI: 1.19–1.96; IMV aOR: 1.41, 95% CI: 1.15–1.72; death aOR: 1.37, 95% CI: 1.08–1.74). […] This large study of United States PI patients provides real-world evidence that PI is a risk factor for adverse COVID-19 outcomes.

• #15 Primary Immunodeficiency: Types & Symptoms

  https://my.clevelandclinic.org/health/diseases/17964-primary-immunodeficiency

  What is the prognosis (outlook) for people with primary immunodeficiency? With treatment, most people with PIDD live healthy lives. In some cases, you’ll have to take medication for the rest of your life. […] If you have an infection that doesn’t go away, is unusually severe or keeps coming back, contact your healthcare provider for an evaluation to determine if you have PIDD. If you know you have PIDD, contact your provider immediately if you have a fever or infection. This is necessary to prevent complications.

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

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

  Ig replacement therapy combined with antibiotic therapy has greatly improved the outlook of people with CVID. The aim of the treatment is to keep the individual free of infections and to prevent the development of chronic inflammatory changes in tissues. The outlook for people with CVID depends on how much damage has occurred to lungs or other organs before the diagnosis is made and treatment Ig replacement therapy started, as well as how successfully infections can be prevented in the future by using these therapies. The development of autoimmune disease, inflammatory problems, granulomas, and/or malignancy can have a significant impact on the quality of life. These diagnoses often require additional therapies.

• #17

  https://indianpediatrics.net/june2013/june-579-586.htm

  The results of the initial tests usually give an important clue to the underlying immune defect. […] Diagnosis of specific PID from a large spectrum of disorders requires expertise in clinical and laboratory evaluation. […] Recognizing a suspicious case of PID at a regional hospital level is important to ensure timely referral to a specialized centre for diagnosis and treatment for these patients.

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