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PubMed · 10972897

Structure-function effects in primary immunodeficiencies.

M Korpi·J Väliaho·M Vihinen
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Abstract

Several 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.

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Agammaglobulinaemia Tyrosine KinaseAgammaglobulinemiaCarrier ProteinsDatabases, FactualGranulomatous Disease, ChronicImmunologic Deficiency SyndromesIntracellular Signaling Peptides and ProteinsJanus Kinase 3Membrane GlycoproteinsMembrane Transport ProteinsModels, MolecularMutationNADPH DehydrogenaseNADPH Oxidase 2NADPH OxidasesPhosphoproteinsPhosphorylationProtein ConformationProtein Processing, Post-TranslationalProtein-Tyrosine KinasesSignaling Lymphocytic Activation Molecule Associated ProteinStructure-Activity Relationshipsrc Homology DomainsJournal ArticleResearch Support, Non-U.S. Gov'tReview

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BibTeXRIS

M Korpi, J Väliaho, M Vihinen. 2000. Structure-function effects in primary immunodeficiencies.. https://doi.org/10.1046/j.1365-3083.2000.00799.x

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