Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rβ1 chains

Israel Medical Association Journal

Volumn 9, Issue 7, 2007, Pages 560-561

  Scheuerman, Oded ^a,c   de Beaucoudrey, Ludovic ^b   Hoffer, Vered ^a,c   Feinberg, Jacqueline ^b   Casanova, Jean Laurent ^b   Garty, Ben Zion ^a,c  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b IMAGINE INSTITUTE   (France)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

Atypical mycobacteria; Deficiency; Interferon gamma; Interleukin 12; Salmonella

Indexed keywords

C REACTIVE PROTEIN; CLARITHROMYCIN; CORTICOSTEROID; GAMMA INTERFERON; INTERLEUKIN 12 RECEPTOR BETA1; RHEUMATOID FACTOR; RIFABUTIN; RIFAMPICIN;

ACID FAST BACTERIUM; ANTIBIOTIC SENSITIVITY; ARTICLE; BLOOD SMEAR; CASE REPORT; CERVICAL LYMPHADENOPATHY; CLINICAL FEATURE; DRUG MEGADOSE; DRUG SUBSTITUTION; ERYTHROCYTE SEDIMENTATION RATE; GENE DELETION; GENETIC ANALYSIS; GENETIC DISORDER; GRANULOMA; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; LYMPHADENITIS; MALE; MYCOBACTERIOSIS; MYCOBACTERIUM AVIUM; NEEDLE BIOPSY; PRESCHOOL CHILD; PROTEIN BLOOD LEVEL; SALMONELLOSIS; SPLEEN BIOPSY; SPLENECTOMY;

BACTEREMIA; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CHRONIC DISEASE; CONSANGUINITY; EXONS; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTERFERON TYPE II; INTERLEUKIN-12; MALE; RECEPTORS, INTERLEUKIN-12; RECURRENCE; SALMONELLA INFECTIONS; TUBERCULOSIS, LYMPH NODE;

EID: 34547614445     PISSN: 15651088     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Ann Rev Immunol 2002;20:581-620.
2. Filipe-Santos O, Bustamante J, Chapgier A, et al. Inborn errors of IL-12/ 23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 2006;18:347-61.
3. Newport NJ, Huxley CM, Huston S, et al. A mutation in the interferon-γ-receptor gene and susceptibility to mycobacterial infection. N Engl Med 1996;335:1941-9.
4. Jouanguy E, Altare F. Lamhamedi S, et al. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. N Engl J Med 1996;335: 1956-61.
5. Fieschi C, Bosticardo M, de Beaucoudrey L, et al. A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptors. Blood 2004;104:2095-101. Epub 2004 Jun 3.