Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM

Background: X linked hyper-IgM (XHIM) is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate...

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Veröffentlicht in:	Molecular pathology 2003-10, Vol.56 (5), p.256-262
Hauptverfasser:	Gilmour, K C, Walshe, D, Heath, S, Monaghan, G, Loughlin, S, Lester, T, Norbury, G, Cale, C M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aging - immunology Biological and medical sciences Case studies CD40 ligand CD40 Ligand - blood CD40 Ligand - genetics CD40L Cells, Cultured Child Child, Preschool common variable immunodeficiency CVID Diagnosis diagnostic strategy DNA Mutational Analysis FITC fluorescein isothiocyanate forward Genetic aspects Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - immunology Humans Hypergammaglobulinemia - diagnosis Hypergammaglobulinemia - genetics Hypergammaglobulinemia - immunology Immunodeficiencies Immunodeficiencies. Immunoglobulinopathies immunodeficiency Immunoglobulin M - blood Immunoglobulins - biosynthesis Immunological deficiency syndromes Immunopathology Infant Medical sciences Middle Aged Original Pathology, Molecular Patient Selection PCP Pneumocystis carinii pneumonia reverse single strand conformation polymorphism SSCP TNFSF5 WAS Wiskott-Aldrich syndrome X linked hyper-IgM X linked lymphoproliferative disease XHIM XLP
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