Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2007
Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital.
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Lee Wen-I, Huang Jing-Long, Kuo Ming-Ling, Lin Syh-Jae, Chen Li-Chen, Chen Mai-Tzu, Jaing Tang-Her
Аннотация
BACKGROUND: Seven known genetic defects, including Bruton tyrosine kinase (Btk), CD4OL, and signaling lymphocyte activation molecule-associated protein (SAP) (all X-linked) and inducible costimulator molecule (ICOS), transmembrane activator and calcium-modulator and cytophilin ligand interactor (TACI), B-cell-activating factor of the tumor necrosis family receptor (BAFFR), and CD19 (all autosomal recessive), were found in patients with the phenotype of common variable immunodeficiency (CVID).
OBJECTIVE: To investigate these 7 candidate protein expressions and candidate gene sequences for comprehensive analysis of known genetic defects in patients with CVID.
METHODS: These 7 candidate protein expressions were evaluated by flow cytometry or Western blot, and candidate genes were evaluated by direct sequencing.
RESULTS: Of 9 CVID patients from a single Taiwanese tertiary care hospital, we identified 2 cousins with decreased Btk expression who had a mutated (Asp521Val) kinase domain of Btk (1694A>T in exon 15) and 1 patient with decreased CD40L expression who had a mutated (Thr254Met) extracellular domain of CD40L (782T>C in exon 5).
CONCLUSION: This comprehensive approach revealed that, in Taiwan, in some patients mild forms of X-linked agammaglobulinemia and hyper-IgM syndrome caused the CVID phenotype. No mutations of SAP, ICOS, TACI, BAFFR, and CD19 were identified in this study, although selection bias among the small study population and genetic variation may exist.
OBJECTIVE: To investigate these 7 candidate protein expressions and candidate gene sequences for comprehensive analysis of known genetic defects in patients with CVID.
METHODS: These 7 candidate protein expressions were evaluated by flow cytometry or Western blot, and candidate genes were evaluated by direct sequencing.
RESULTS: Of 9 CVID patients from a single Taiwanese tertiary care hospital, we identified 2 cousins with decreased Btk expression who had a mutated (Asp521Val) kinase domain of Btk (1694A>T in exon 15) and 1 patient with decreased CD40L expression who had a mutated (Thr254Met) extracellular domain of CD40L (782T>C in exon 5).
CONCLUSION: This comprehensive approach revealed that, in Taiwan, in some patients mild forms of X-linked agammaglobulinemia and hyper-IgM syndrome caused the CVID phenotype. No mutations of SAP, ICOS, TACI, BAFFR, and CD19 were identified in this study, although selection bias among the small study population and genetic variation may exist.
Предметные рубрики MeSH
AdolescentAdultAgammaglobulinaemia Tyrosine KinaseAgammaglobulinemiaAge of OnsetAgedAmino Acid SequenceAntigens, CD19Antigens, Differentiation, T-LymphocyteB-Cell Activation Factor ReceptorBase SequenceBlotting, WesternCD40 LigandChildChild, PreschoolCommon Variable ImmunodeficiencyFemaleFlow CytometryGene ExpressionHumansHyper-IgM Immunodeficiency Syndrome, Type 1Inducible T-Cell Co-Stimulator ProteinInfantIntracellular Signaling Peptides and ProteinsMaleMolecular Sequence DataPhenotypeProtein-Tyrosine KinasesReverse Transcriptase Polymerase Chain ReactionSignaling Lymphocytic Activation Molecule Associated ProteinTaiwanTransmembrane Activator and CAML Interactor Protein