The pediatric common variable immunodeficiency - from genetics to therapy: a review
Aleksandra Szczawinska-Poplonyk1, Eyal Schwartzmann2, Ewelina Bukowska-Olech2,3
1Department of Pediatric Pneumonology, Allergy and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Karol Jonscher University Hospital, 27/33 Szpitalna Street, 60-572, Poznan, Poland. aszczawinska@ump.edu.pl.
European Journal of Pediatrics
|December 23, 2021
Summary
Common variable immunodeficiency (CVID) in children presents diagnostic challenges due to immune system immaturity. Early recognition and intervention are crucial for improving outcomes in this heterogeneous antibody deficiency disorder.
Area of Science:
- Pediatric Immunology
- Clinical Immunology
- Immunodeficiency Disorders
Background:
- Common variable immunodeficiency (CVID) is a prevalent antibody deficiency with significant genetic, immunological, and clinical heterogeneity.
- Pediatric CVID diagnosis is complicated by immune system immaturity, overlapping features with other inborn errors of immunity, and developing antibody responses.
- Despite advances in immunogenetics, a lack of extensive studies on pediatric CVID's systemic and immunological aspects contributes to diagnostic and therapeutic delays.
Purpose of the Study:
- To review the epidemiological, etiological, and clinical characteristics of pediatric CVID.
- To highlight predominant infectious and non-infectious phenotypes in children with CVID.
- To emphasize the need for increased pediatrician awareness for early diagnosis and improved patient outcomes.
Main Methods:
- This study is a review of existing literature on pediatric CVID.
- Focuses on summarizing epidemiological, etiological, and clinical data.
- Emphasizes common infectious and non-infectious presentations.
Main Results:
- Pediatric CVID exhibits diverse clinical presentations and immunological features.
- Infectious and non-infectious phenotypes are key aspects of the disease in children.
- Diagnostic challenges persist due to immune system immaturity and overlapping conditions.
Conclusions:
- Pediatric CVID is a complex condition requiring greater awareness among pediatricians.
- Preventing diagnostic and therapeutic delays is essential for improving prognosis and survival.
- Timely intervention can significantly enhance the quality of life for pediatric CVID patients.
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