Common Variable Immunodeficiency

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作者：Biman Saikia ; Sudhir Gupta
关键词：Common variable immunodeficiency ; Clinical manifestations ; Autoimmunity ; Immunological changes
刊名：The Indian Journal of Pediatrics
出版年：2016
出版时间：April 2016
年：2016
卷：83
期：4
页码：338-344
全文大小：278 KB
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作者单位：Biman Saikia (1) Sudhir Gupta (2) 1. Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, 160012, India 2. Programs in Primary Immunodeficiencies and Human Aging, Division of Basic and Clinical Immunology, University of California, Irvine, USA
刊物主题：Pediatrics; Gynecology;
出版者：Springer India
ISSN：0973-7693

文摘

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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