Structure-function effects in primary immunodeficiencies

Several immunodeficiency-related genes have been identified and a large num ber of mutations in these genes. Currently, a genetic defect has been deter mined in more than 2000 patients. Only recently has it become possible to a ddress structure-function effects of these mutations in the corresponding p roteins. The consequences of mutations in structure are discussed for Btk i n X-linked agammaglobulinemia (XLA), Jak3 in T-B+ severe combined immunodef iciency (SCID), p47(phox) and p67(phox) in autosomal chronic granulomatous disease (CGD) and SH2D1 A in X-linked lymphoproliferatine disease (XLP). Th e experimental and homology modelling derived structures were used to analy ze mechanisms related to these diseases.