Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation-Reference-Cited by-同舟云学术

Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation

Published:2001-07-13 Issue:5528 Volume:293 Page:300-303
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Dupuis Stéphanie¹²,Dargemont Catherine³,Fieschi Claire¹,Thomassin Nicolas⁴,Rosenzweig Sergio⁵,Harris Jeff⁶,Holland Steven M.⁵,Schreiber Robert D.⁷,Casanova Jean-Laurent¹⁸

Affiliation:

1. Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris RenéDescartes–INSERM UMR550, Faculté de Médecine Necker-Enfants Malades, 75015 Paris, France.

2. INSERM U429, Hôpital Necker-Enfants Malades, 75015 Paris, France.

3. Institut Jacques Monod, CNRS–Université Paris VI–Université Paris VII– CNRS UMR7592, 75005 Paris, France.

4. Departement de Pédiatrie, Centre Hospitalier Général, 58000 Nevers, France.

5. Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892–1886, USA.

6. Department of Pediatrics, University of California at San Francisco, San Francisco, CA 94117, USA.

7. Department of Pathology, Washington University, St. Louis, MO 63110, USA.

8. Unitéd'Hématologie-Immunologie Pédiatrique, Hôpital Necker-Enfants Malades, 75015 Paris, France.

Abstract

Interferons (IFN) α/β and γ induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). We report a natural heterozygous germline STAT1 mutation associated with susceptibility to mycobacterial but not viral disease. This mutation causes a loss of GAF and ISGF3 activation but is dominant for one cellular phenotype and recessive for the other. It impairs the nuclear accumulation of GAF but not of ISGF3 in heterozygous cells stimulated by IFNs. Thus, the antimycobacterial, but not the antiviral, effects of human IFNs are principally mediated by GAF.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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