Fatal combined immunodeficiency associated with heterozygous mutation in STAT1

• Published in: Journal of allergy and clinical immunology Vol. 133; no. 3; pp. 807 - 817
• Main Authors: Sharfe, Nigel, PhD, Nahum, Amit, MD, PhD, Newell, Andrea, BSc, Dadi, Harjit, PhD, Ngan, Bo, MD, Pereira, Sergio L., PhD, Herbrick, Jo-Anne, BSc, Roifman, Chaim M., MD
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.03.2014; Elsevier
• Subjects: Adolescent; Allergy and Immunology; Biological and medical sciences; Child; Child, Preschool; Combined immunodeficiency; fas Receptor - analysis; Female; Fundamental and applied biological sciences. Psychology; Fundamental immunology; Heterozygote; Humans; Immunologic Deficiency Syndromes - genetics; Immunologic Deficiency Syndromes - mortality; Immunopathology; Male; Medical sciences; Mutation; Mycobacterium; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; STAT1; STAT1 Transcription Factor - analysis; STAT1 Transcription Factor - genetics; STAT1 Transcription Factor - physiology; Interleukin; Peripheral blood lymphocyte; PHA; mRNA; Phytohemagglutinin; IFN; BSA; Messenger RNA; Combined immunodeficiency; CMCC; Deoxyribonucleic acid; Peripheral blood mononuclear cell; EBV; Epstein-Barr virus; PBL; Enzyme-linked immunosorbent assay; PBS; Bovine serum albumin; Cytomegalovirus; Polyacrylamide gel electrophoresis; IL; Chronic mucocutaneous candidiasis; STAT1; BCG; Phosphate-buffered saline [solution]; Signal transducer and activator of transcription 1; PAGE; Forkhead box P3; CMV; FOXP3; PBMC; mutation; Bacillus Calmette–Guérin; Natural killer; DNA; JC; Interferon; Jamestown Canyon virus; NK; ELISA; Transcription factor STAT1; Immunopathology; Association; Immunology; Genetics; Mutation; Combined immune deficiency; Combined immunodeifciency; Heterozygosity

Background Mutations in the gene for the signal transducer and activator of transcription 1, STAT1, have been shown to be associated with death at an early age due to overwhelming viral infection (complete STAT1 deficiency) or, more commonly, selective deficiencies to mycobacterial or fungal infecti...