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Common Variable Immunodeficiency

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Abstract

Common variable immunodeficiency (CVID) is the most common primary immunodeficiency of young adolescents and adults which also affects the children. The disease remains largely under-diagnosed in India and Southeast Asian countries. Although in majority of cases it is sporadic, disease may be inherited in a autosomal recessive pattern and rarely, in autosomal dominant pattern. Patients, in addition to frequent sino-pulmonary infections, are also susceptible to various autoimmune diseases and malignancy, predominantly lymphoma and leukemia. Other characteristic lesions include lymphocytic and granulomatous interstitial lung disease, and nodular lymphoid hyperplasia of gut. Diagnosis requires reduced levels of atleast two immunoglobulin isotypes: IgG with IgA and/or IgM and impaired specific antibody response to vaccines. A number of gene mutations have been described in CVID; however, these genetic alterations account for less than 20 % of cases of CVID. Flow cytometry aptly demonstrates a disturbed B cell homeostasis with reduced or absent memory B cells and increased CD21low B cells and transitional B cell populations. Approximately one-third of patients with CVID also display T cell functional defects. Immunoglobulin therapy remains the mainstay of treatment. Immunologists and other clinicians in India and other South East Asian countries need to be aware of CVID so that early diagnosis can be made, as currently, majority of these patients still go undiagnosed.

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Contributions

BS: Wrote the manuscript; SG: Wrote, edited and finalized the manuscript. Prof. Surjit Singh, Professor of Pediatrics and Incharge Allergy Immunology Unit, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, will act as guarantor for the paper.

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Authors and Affiliations

  1. Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India

    Biman Saikia

  2. Programs in Primary Immunodeficiencies and Human Aging, Division of Basic and Clinical Immunology, University of California, Irvine, USA

    Sudhir Gupta

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  1. Biman Saikia
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Correspondence to Biman Saikia.

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Saikia, B., Gupta, S. Common Variable Immunodeficiency. Indian J Pediatr 83, 338–344 (2016). https://doi.org/10.1007/s12098-016-2038-x

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  • DOI: https://doi.org/10.1007/s12098-016-2038-x

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