Immunological aspects of immunodeficiency diseases part 16

Immune 3

 

Ninety percent of all such cases occur in boys due to mutation of the BTK gene, which maps to the X chromosome (Xp22). This condition is called X-liked  agammaglobulinemia, which was the first immunodeficiency to be described in 1952 by Colonel Ogden Bruton. Mutation in the genes, encoding μ5, Igα, Igβ and BLNK cause rare autosomal recessive forms of early-onset antibody deficiency with severe B lymphopenia.

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