Three novel mutations reflect the variety of defects causing phenotypically diverse X-linked hyper-IgM syndrome

Clinical and Experimental Immunology

Volumn 133, Issue 1, 2003, Pages 123-131

  Lopez Granados E ^a   Cambronero, R ^a   Ferreira, A ^a   Fontan G ^a   Garcia Rodriguez M C ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

CD40 ligand; Molecular diagnosis; Receptor ligand interaction; X linked hyper IgM syndrome

Indexed keywords

CD40 LIGAND; CYTOKINE; DNA; IMMUNOGLOBULIN M; TUMOR NECROSIS FACTOR;

ANTIGEN EXPRESSION; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FLOW CYTOMETRY; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERIMMUNOGLOBULINEMIA M; IMMUNE DEFICIENCY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR BINDING; RECURRENT INFECTION; SYNDROME DELINEATION; X CHROMOSOME LINKED DISORDER;

BASE SEQUENCE; CD40 LIGAND; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CRYSTALLOGRAPHY; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE EXPRESSION; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; INFANT; INTRONS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, QUATERNARY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0038385436     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2003.02184.x     Document Type: Article

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