title: Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass; Pediatric Infectious Diseases Unit, Mansoura University Children Hospital, Mansoura Faculty of Medicine, Mansoura, Egypt.
authors.forename: Ali
authors.initials: A
authors.lastname: Sobh
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Lynda
authors.initials: L
authors.lastname: Schneider
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
authors.affiliation: Division of Immunology, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Harvard Medical School, Boston, Mass. Electronic address: michel.massaad@childrens.harvard.edu.
authors.forename: Michel J
authors.initials: MJ
authors.lastname: Massaad
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology; D002178:Candidiasis, Chronic Mucocutaneous / Q000235:genetics* / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D002908:Chronic Disease; D005260:Female; D015870:Gene Expression; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology / Q000473:pathology; D018655:Lymphocyte Count; D008231:Lymphopenia / Q000235:genetics* / Q000276:immunology / Q000382:microbiology / Q000473:pathology; D009154:Mutation; D010766:Phosphorylation; D000072417:Protein Domains; D050794:STAT1 Transcription Factor / Q000235:genetics* / Q000276:immunology; D016415:Sequence Alignment; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology
chemical_list: D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human