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x-linked disorder -- severity varies w/ age but usually results in fatal infection or lymphoid malignancy
manifests by defective responses to bacterial polysaccharides and by lower-than-average IgM levels recurrent bacterial infections during aging, gradual loss of humoral and cell-mediated responses includes thrombocytopenia, eczema defect is mapped to short arm of X chromosome -- involves cytoskeletal glycoprotein present in lymphoid cells called sialophorin (CD43) |
Wiskott-Aldrich Syndrome (WAS)
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characterized by extremely low IgG levels and by the absence of other Ig classes
no peripheral B cells and suffer from recurrent bacterial infections defect in B-cell signal transduction -- due to defect in a transduction molecule called Bruton's tyrosine kinase (Btk) B cells in these patients remain in the pre-B stage w/ H chains rearranged but L chains in their germ-line configuration |
X-linked agammaglobulinemia
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