Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Mendelian susceptibility to mycobacterial infection in man
Autore:
Casanova, JL;
Indirizzi:
Fac Med Necker Enfants Malad, Lab Genet Humaine Malad Infect, F-75015 Paris, France Fac Med Necker Enfants Malad Paris France F-75015 F-75015 Paris, France Hop Necker Enfants Malad, Unite Clin Immunol & Hematol Pediat, Paris, France Hop Necker Enfants Malad Paris France l & Hematol Pediat, Paris, France
Titolo Testata:
SWISS MEDICAL WEEKLY
fascicolo: 31-32, volume: 131, anno: 2001,
pagine: 445 - 454
SICI:
1424-7860(20010811)131:31-32<445:MSTMII>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
INTERFERON-GAMMA-RECEPTOR; CALMETTE-GUERIN INFECTION; AVIUM COMPLEX INFECTION; IFN-GAMMA; DEFICIENCY; INTERLEUKIN-12; CHILD; SALMONELLA; IL-12; GENE;
Keywords:
mycobacterial infection; BCG; non-tuberculous mycobacteria;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Casanova, JL Fac Med Necker Enfants Malad, Lab Genet Humaine Malad Infect,156 Rue Vaugirard, F-75015 Paris, France Fac Med Necker Enfants Malad 156 Rue Vaugirard Paris France F-75015
Citazione:
J.L. Casanova, "Mendelian susceptibility to mycobacterial infection in man", SWISS MED W, 131(31-32), 2001, pp. 445-454

Abstract

Selective susceptibility to weakly pathogenic mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccine and environmental non-tuberculous mycobacteria (NTM), has long been suspected to be a Mendelian disorder but its molecular basis remained elusive. Recently, mutations in the interferon-gamma receptor ligand-binding chain (IFN gamma R1), interferon-gamma receptor signaling chain (IFN gamma R2), Signal Transducer and Activator of Transcription-1 (STAT-1), interleukin-12 p40 subunit (IL-12 p40), and interleukin-12 receptor beta1 chain (IL-12R beta1) genes have been identified in a number ofpatients with severe BCG or NTM infection. Dominant or recessive alleles causing complete or partial cellular defects have been found to define nine different inheritable disorders. Although genetically distinct, these conditions are immunologically related and highlight the essential role of interferon gamma -mediated immunity in the control of mycobacteria in man. The genetic and immunologic heterogeneity of this syndrome makes accurate diagnosis challenging but vital as decisions about the most appropriate treatmentare best taken based on an accurate molecular diagnosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/04/20 alle ore 10:08:55