Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1

Clinical Immunology

Volumn 166-167, Issue , 2016, Pages 100-102

  Badran, Yousef R ^a,c   Massaad, Michel J ^a,c   Bainter, Wayne ^a,c   Cangemi, Brittney ^a,c   Naseem, Shafiq Ur Rehman ^b   Javad, Hashim ^b   Al Tamemi, Salem ^b   Geha, Raif S ^a,c   Chou, Janet ^a,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b SULTAN QABOOS UNIVERSITY   (Oman)

^c HARVARD MEDICAL SCHOOL   (United States)

Author keywords

ORAI1; Severe combined immunodeficiency; Whole exome sequencing

Indexed keywords

CALCIUM RELEASE ACTIVATED CALCIUM CHANNEL 1; CD3 ANTIBODY; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; STROMAL INTERACTION MOLECULE 1; ORAI1 PROTEIN, HUMAN; PROTEIN BINDING; STIM1 PROTEIN, HUMAN; TUMOR PROTEIN;

ADENOVIRUS INFECTION; AMINO TERMINAL SEQUENCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; EXON; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN PARAINFLUENZA VIRUS 3; LETTER; LYMPHOCYTE COUNT; MOLECULAR WEIGHT; MUSCLE HYPOTONIA; NASOPHARYNGEAL ASPIRATION; NATURAL KILLER CELL; NONSENSE MUTATION; PARAINFLUENZA VIRUS INFECTION; PNEUMOCYSTOSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; RESPIRATORY FAILURE; RESPIRATORY SYNCYTIAL VIRUS INFECTION; RESPIRATORY TRACT INFECTION; SEVERE COMBINED IMMUNODEFICIENCY; STOP CODON; TRACHEOBRONCHIAL TOILET; DNA SEQUENCE; EXOME; FATALITY; GENETICS; HEK293 CELL LINE; HOMOZYGOTE; INFANT; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE;

BASE SEQUENCE; EXOME; FATAL OUTCOME; FEMALE; HEK293 CELLS; HOMOZYGOTE; HUMANS; INFANT; MUTATION; NEOPLASM PROTEINS; ORAI1 PROTEIN; PROTEIN BINDING; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY; STROMAL INTERACTION MOLECULE 1;

EID: 84973495989     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2016.03.012     Document Type: Letter

References (9)

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