A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 2, 2015, Pages 479-482.e1

  Chou, Janet ^a,b   Badran, Yousef R ^a,b   Yee, Christina S K ^a,b   Bainter, Wayne ^a,b   Ohsumi, Toshiro K ^c   Al Hammadi, Suleiman ^d   Pai, Sung Yun ^a,e   Feske, Stefan ^f   Geha, Raif S ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e DANA FARBER CANCER INSTITUTE   (United States)

^f NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B LYMPHOCYTE RECEPTOR; BUSULFAN; CALCIUM; CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; CD27 ANTIGEN; CD45RA ANTIGEN; CD45RO ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; NATURAL KILLER CELL RECEPTOR; PHOSPHOLIPASE C GAMMA; STROMAL INTERACTION MOLECULE 1; T LYMPHOCYTE RECEPTOR; THYMOCYTE ANTIBODY; CALCIUM CHANNEL; ORAI1 PROTEIN, HUMAN; PHORBOL 13 ACETATE 12 MYRISTATE;

ANTIBODY TITER; CALCIUM TRANSPORT; CASE REPORT; CD4+ T LYMPHOCYTE; CELL MEMBRANE; COMBINED IMMUNODEFICIENCY; CONSANGUINEOUS MARRIAGE; CYTOMEGALOVIRUS INFECTION; CYTOTOXIC T LYMPHOCYTE; EMIRATI; ENDOPLASMIC RETICULUM; GENE MUTATION; GENE SEQUENCE; HEMATOPOIETIC STEM CELL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LETTER; LYMPHOCYTE FUNCTION; LYMPHOCYTE PROLIFERATION; MALE; MEMORY CELL; MUSCLE HYPOTONIA; PNEUMONIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT INFECTION; ADULT; CELL PROLIFERATION; CHILD; CONSANGUINITY; DRUG EFFECTS; FEMALE; FIBROBLAST; GENE EXPRESSION; GENETIC TRANSFECTION; GENETICS; HEK293 CELL LINE; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOLOGY; ION TRANSPORT; MUTATION; PATHOLOGY; PEDIGREE; PRIMARY CELL CULTURE; T LYMPHOCYTE;

ADULT; CALCIUM CHANNELS; CELL PROLIFERATION; CHILD; CONSANGUINITY; FEMALE; FIBROBLASTS; GENE EXPRESSION; HEK293 CELLS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; ION TRANSPORT; MALE; MUTATION; PEDIGREE; PRIMARY CELL CULTURE; T-LYMPHOCYTES; TETRADECANOYLPHORBOL ACETATE; TRANSFECTION;

EID: 84938740447     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.03.050     Document Type: Article

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