title: A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function.
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
authors.forename: Janet
authors.initials: J
authors.lastname: Chou
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
authors.forename: Yousef R
authors.initials: YR
authors.lastname: Badran
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
authors.forename: Christina S K
authors.initials: CSK
authors.lastname: Yee
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
authors.forename: Wayne
authors.initials: W
authors.lastname: Bainter
authors.affiliation: Department of Molecular Biology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
authors.forename: Toshiro K
authors.initials: TK
authors.lastname: Ohsumi
authors.affiliation: Department of Pediatrics, United Arab Emirates University, United Arab Emirates.
authors.forename: Suleiman
authors.initials: S
authors.lastname: Al-Hammadi
authors.affiliation: Division of Hematology-Oncology, Boston Children's Hospital, Boston, MA and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA.
authors.forename: Sung-Yun
authors.initials: SY
authors.lastname: Pai
authors.affiliation: Department of Pathology, Langone Medical Center, New York University.
authors.forename: Stefan
authors.initials: S
authors.lastname: Feske
authors.affiliation: Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA.
authors.forename: Raif S
authors.initials: RS
authors.lastname: Geha
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics / Q000276:immunology*; D049109:Cell Proliferation / Q000187:drug effects; D002648:Child; D003241:Consanguinity; D005260:Female; D005347:Fibroblasts / Q000276:immunology* / Q000473:pathology; D015870:Gene Expression; D057809:HEK293 Cells; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D017136:Ion Transport; D008297:Male; D009154:Mutation; D000071740:ORAI1 Protein; D010375:Pedigree; D061251:Primary Cell Culture; D013601:T-Lymphocytes / Q000187:drug effects / Q000276:immunology* / Q000473:pathology; D013755:Tetradecanoylphorbol Acetate / Q000494:pharmacology; D014162:Transfection
chemical_list: D015220:Calcium Channels; D000071740:ORAI1 Protein; C510746:ORAI1 protein, human; D013755:Tetradecanoylphorbol Acetate