Genetics of primary immunodeficiency diseases

Reviews in Immunogenetics

Volumn 2, Issue 2, 2000, Pages 231-242

  Conley, M E ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

Adaptor proteins; Btk; Linkage analysis; Mutation detection; Signal transduction; Tyrosine kinase

Indexed keywords

ADAPTOR PROTEIN; COMPLEMENT COMPONENT C2; COMPLEMENTARY DNA; CYTOKINE RECEPTOR; GAMMA INTERFERON RECEPTOR; GLYCOPROTEIN GP 39; IMMUNOGLOBULIN MU CHAIN; INTERLEUKIN 12; INTERLEUKIN 12 RECEPTOR; INTERLEUKIN 2 RECEPTOR; INTERLEUKIN 7 RECEPTOR; LIGAND; MEMBRANE PROTEIN; MESSENGER RNA; PERFORIN; PROTEIN TYROSINE KINASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; TRANSCRIPTION FACTOR;

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME INACTIVATION; DISEASE ASSOCIATION; DNA LIBRARY; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; IMMUNE DEFICIENCY; IMMUNITY; MOLECULAR GENETICS; NATURAL KILLER CELL; PHENOTYPE; REVIEW; SIGNAL TRANSDUCTION; X CHROMOSOME LINKED DISORDER;

HUMAN; IMMUNOLOGIC DEFICIENCY SYNDROMES; NADPH OXIDASE; SIGNAL TRANSDUCTION;

EID: 0033776589     PISSN: 13981714     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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51. Cloning of the gamma chain of the human IL-2 receptor
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83. Predominance of null mutations in ataxia-telangiectasia
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112. Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42
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114. Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains
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116. Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization
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128. Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4
129. Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes
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131. Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency
132. Common variable immunodeficiency is associated with polymorphic markers in the human major histocompatibility complex
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135. An Alu element in the myeloperoxidase promoter contains a composite SP1-thyroid hormone-retinoic acid response element
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144. Defects in B lymphocyte maturation and T lymphocyte activation in mice lacking Jak3