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lüll Structure-function effects in primary immunodeficiencies Korpi M; Valiaho J; Vihinen MScand J Immunol 2000[Sep]; 52 (3): 226-32Several immunodeficiency-related genes have been identified and a large number of mutations in these genes. Currently, a genetic defect has been determined in more than 2000 patients. Only recently has it become possible to address structure-function effects of these mutations in the corresponding proteins. The consequences of mutations in structure are discussed for Btk in X-linked agammaglobulinemia (XLA), Jak3 in T-B+ severe combined immunodeficiency (SCID), p47phox and p67phox in autosomal chronic granulomatous disease (CGD) and SH2D1 A in X-linked lymphoproliferatine disease (XLP). The experimental and homology modelling derived structures were used to analyze mechanisms related to these diseases.|*Intracellular Signaling Peptides and Proteins[MESH]|*Membrane Transport Proteins[MESH]|*Mutation[MESH]|Agammaglobulinaemia Tyrosine Kinase[MESH]|Agammaglobulinemia/genetics[MESH]|Carrier Proteins/chemistry/genetics[MESH]|Databases, Factual[MESH]|Granulomatous Disease, Chronic/genetics[MESH]|Immunologic Deficiency Syndromes/*genetics[MESH]|Janus Kinase 3[MESH]|Membrane Glycoproteins/chemistry/deficiency/genetics[MESH]|Models, Molecular[MESH]|NADPH Dehydrogenase/chemistry/deficiency/genetics[MESH]|NADPH Oxidase 2[MESH]|NADPH Oxidases/chemistry/deficiency/genetics[MESH]|Phosphoproteins/chemistry/deficiency/genetics/physiology[MESH]|Phosphorylation[MESH]|Protein Conformation[MESH]|Protein Processing, Post-Translational[MESH]|Protein-Tyrosine Kinases/chemistry/deficiency/genetics[MESH]|Signaling Lymphocytic Activation Molecule Associated Protein[MESH]|Structure-Activity Relationship[MESH]|src Homology Domains/genetics[MESH] |