Dictionary of Human Evolution and Biology

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Agammaglobulinemia (XLA)

An X-linked recessive disorder, one of the heritable primary immunodeficiency diseases (PIDs), characterized by lack of mature B cells associated with IgM heavy chain rearrangements. Onset is in the third decade, and affected individuals cannot synthesize certain antibodies. There are several modalities. The most common defect is caused by mutations in the Bruton-type tyrosine kinase gene (BTK), an essential regulator in B cell development. X-linked severe combined immune deficiency is a more severe form; yet another X-linked (Swiss) type also exists. Adenosine deaminase deficiency is an autosomal dominant form; the remaining forms are either autosomal recessive forms, or of unknown etiology.

Cf. severe combined immune deficiency syndromes.

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