B Cell Disorders in Children—Part I

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.

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Correspondence to William K. Dolen.

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Gilchrist, B., Dolen, W.K. B Cell Disorders in Children—Part I. Curr Allergy Asthma Rep 20, 52 (2020). https://doi.org/10.1007/s11882-020-00938-0

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Keywords

  • B cell disorders
  • Antibody deficiency
  • Agammaglobulinemia
  • Common variable immunodeficiency
  • Immunodeficiency in children