Published in:
01-09-2020 | Immunodeficiency | Pediatric Allergy and Immunology (W Dolen, Section Editor)
B Cell Disorders in Children—Part I
Authors:
Bailee Gilchrist, William K. Dolen
Published in:
Current Allergy and Asthma Reports
|
Issue 9/2020
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Abstract
Purpose of Review
The advent of enhanced genetic testing has allowed for the discovery of gene defects underlying two broad categories of antibody deficiency in children: agammaglobulinemia and common variable immunodeficiency (CVID). This review describes the underlying gene defects and the clinical manifestations.
Recent Findings
Because novel monogenetic defects have been discovered in both categories, a strict dichotomous classification of B cell disorders as either X-linked agammaglobulinemia or common variable immunodeficiency is no longer appropriate.
Summary
Advances in genetic testing technology and the decreasing cost of such testing permit more precise diagnosis of B cell disorders, more helpful information for genetic counselors, and a better understanding of the complex process of B cell development and function. More disorders await discovery.