A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 136, Issue 3, 2015, Pages 816-819.e4

  Schaballie, Heidi ^a,b   Rodriguez, Rémy ^c,d   Martin, Emmanuel ^c   Moens, Leen ^b   Frans, Glynis ^a,b   Lenoir, Christelle ^c   Dutré, Joris ^e   Canioni, Danielle ^c   Bossuyt, Xavier ^a,b   Fischer, Alain ^c,f   Latour, Sylvain ^c,d   Meyts, Isabelle ^a,b   Picard, Capucine ^c,d,f  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Hôpital Necker Enfants Malades   (France)

^e ZNA Hospitals   (Belgium)

^f IMAGINE INSTITUTE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; AZATHIOPRINE; IMMUNOGLOBULIN; MESALAZINE; METRONIDAZOLE; STEROID; STROMAL INTERACTION MOLECULE 1; MEMBRANE PROTEIN; STIM1 PROTEIN, HUMAN; TUMOR PROTEIN;

ABSCESS; ADULT; ANTIBIOTIC THERAPY; BACTERIAL PNEUMONIA; BRONCHIECTASIS; CASE REPORT; CELLULITIS; CHILD; COLITIS; CONSANGUINEOUS MARRIAGE; DERMATITIS; ENAMEL HYPOPLASIA; FAILURE TO THRIVE; FEMALE; GENE MUTATION; GENERALIZED LYMPHADENOPATHY; GROUP A STREPTOCOCCAL INFECTION; HEPATOSPLENOMEGALY; HERPES ZOSTER; HISTOPATHOLOGY; HUMAN; IMMUNE DEFICIENCY; LETTER; MALE; MOTOR DYSFUNCTION; PNEUMOCOCCAL INFECTION; PRIMARY INFECTION; PRIORITY JOURNAL; RECURRENT INFECTION; SCABIES; SCHOOL CHILD; SIBLING; STAPHYLOCOCCUS INFECTION; STEROID THERAPY; TREATMENT RESPONSE; ULCER; UPPER RESPIRATORY TRACT INFECTION; YOUNG ADULT; BACTERIAL INFECTION; CELL PROLIFERATION; COMPLICATION; CONSANGUINITY; GENETICS; IMMUNOLOGY; IMMUNOPHENOTYPING; MUTATION; ONSET AGE; OPPORTUNISTIC INFECTION; PATHOLOGY; T LYMPHOCYTE;

AGE OF ONSET; BACTERIAL INFECTIONS; CELL PROLIFERATION; CHILD; CONSANGUINITY; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; IMMUNOPHENOTYPING; MALE; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; OPPORTUNISTIC INFECTIONS; SIBLINGS; T-LYMPHOCYTES; YOUNG ADULT;

EID: 84941188784     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2015.03.009     Document Type: Article

References (12)

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