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

SUMMARY X‐linked hyper‐IgM syndrome (HIGM1) (MIM♯308230), is a severe primary immunodeficiency caused by mutations in the gene coding for CD40 ligand (CD40L or CD154), a member of the tumour necrosis factor (TNF) superfamily. The interaction of this protein with its ligand, CD40, mediates crucial pr...

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Veröffentlicht in:	Clinical and experimental immunology 2003-07, Vol.133 (1), p.123-131
Hauptverfasser:	LÓPEZ‐GRANADOS, E., CAMBRONERO, R., FERREIRA, A., FONTÁN, G., GARCÍA‐RODRÍGUEZ, M. C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences CD40 ligand CD40 Ligand - chemistry CD40 Ligand - genetics Child Child, Preschool Chromosomes, Human, X Clinical Studies Crystallography Female Flow Cytometry Gene Deletion Gene Expression Humans Hypergammaglobulinemia - genetics Hypergammaglobulinemia - immunology Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies Immunoglobulin M Immunopathology Infant Introns Male Medical sciences molecular diagnosis Molecular Sequence Data Mutation, Missense Polymorphism, Single-Stranded Conformational Protein Structure, Quaternary receptor–ligand interaction Reverse Transcriptase Polymerase Chain Reaction X‐linked hyper‐IgM syndrome
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