Two patients with complete defects in interferon gamma receptor-dependent signaling

Journal of Clinical Immunology

Volumn 27, Issue 5, 2007, Pages 490-496

  Noordzij, Jeroen G ^a   Hartwig, Nico G ^a   Verreck, Frank A W ^b   De Bruin Versteeg, Sandra ^a   De Boer, Tjitske ^b   Dissel, Jaap T Van ^b   De Groot, Ronald ^a   Ottenhoff, Tom H M ^b   Van Dongen, Jacques J M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Deleterious IFNGR1 mutations; ELISA; Flow cytometric analysis; Mycobacterial infection; Splice site mutation

Indexed keywords

ANSAMYCIN DERIVATIVE; CEFOXITIN; CIPROFLOXACIN; CLARITHROMYCIN; CLOFAZIMINE; COTRIMOXAZOLE; DOXYCYCLINE; ETHAMBUTOL; ETHIONAMIDE; GAMMA INTERFERON RECEPTOR; ISONIAZID; MEROPENEM; OFLOXACIN; RIFABUTIN; RIFAMPICIN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ARTICLE; ATYPICAL MYCOBACTERIUM; BCG VACCINATION; BINDING ASSAY; CASE REPORT; CHILD; CHROMOSOME ABERRATION; COMBINATION CHEMOTHERAPY; CONTROLLED STUDY; DISEASE COURSE; EXON; FEMALE; FLOW CYTOMETRY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNE RESPONSE; INFANT; INFECTION RISK; INFECTION SENSITIVITY; INTRON; MALE; MYCOBACTERIOSIS; MYCOBACTERIUM; MYCOBACTERIUM AVIUM; MYCOBACTERIUM GORDONAE; MYCOBACTERIUM PEREGRINUM; MYCOBACTERIUM SZULGAI; PRIORITY JOURNAL; PROGNOSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; TREATMENT RESPONSE;

ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MYCOBACTERIUM INFECTIONS; POINT MUTATION; RECEPTORS, INTERFERON; RNA SPLICE SITES; SEQUENCE DELETION; SIGNAL TRANSDUCTION;

EID: 34548237491     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-007-9097-8     Document Type: Article

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