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JOURNAL ARTICLE
RESEARCH SUPPORT, U.S. GOV'T, P.H.S.
REVIEW
The complex genetics of common variable immunodeficiency.
Immunoglobulin (Ig)A deficiency and common variable immunodeficiency (CVID) are the most common primary immunodeficiency disorders in North America and Europe. These diseases appear to comprise a familial spectrum of immunodeficiency that ranges from partial IgA deficiency to a complete absence of serum immunoglobulin. The CVID phenotype is typically acquired and can spontaneously revert to IgG and IgM sufficiency. Family studies suggest the presence of at least two susceptibility loci within the major histocompatibility complex on the short arm of chromosome 6: one located near the class II region and the other located near the junction between the class III and class I regions. Inheritance of these susceptibility genes may yield an additive risk for the development of immunodeficiency. First-degree family members of patients with CVID are at risk throughout their lives for the development of these diseases and should be monitored with a high index of suspicion.
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