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| 1 | A novel form of cell type- specific partial IFN-gammaR1 deficiency caused by a germ line mu- tation of the IFNGR1 initiation codon显示文摘 | Kong XF Vogt G Chapgier A | 2010 | Hum Mol Genet2010，19，3： | 1 |
| 2 | A partial form of recessive STAT1 deficiency in humans显示文摘 | Chapgier A Kong XF Boisson-Dupuis S | 2009 | J Clin Invest2009，119，6： | 1 |
| 3 | Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency显示文摘 | Dupuis S Jouanguy E Al-Hajjar S Fieschi C Al-Mohsen I Z Al-Jumaah S Yang K Chapgier A Eidenschenk C Eid P Al Ghonaium A Tufenkeji H Frayha H Al-Gazlan S AlRayes H Schreiber R D Gresser I Casanova J L | | 0，，3： | 1 |
| 4 | Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease显示文摘 | Chapgier A Boisson-Dupuis S Jouanguy E | 2006 | PLoS Genet2006，2，8： | 1 |
| 5 | Inborn errors ofIL-12/23 and IFN-y-mediated immunity: molecular, cellular, andclinical fatures显示文摘 | Filipe-Santos O Bustamante J Chapgier A | 2006 | Semin Immunol2006，18，6： | 1 |
| 6 | Inborn errors of IL- 12/23-and IFN-gamma-mediated immunity: molecular, cellular, and clinical features 显示文摘 | Filipe-Santos O Bustamante J Chapgier A | 2006 | Semin Immunot2006，18，6： | 1 |
| 7 | A partialform of recessive STAT1 deficiency in humans显示文摘 | Chapgier A Kong XF Boisson Dupuis S | 2009 | J ClinInvest2009，119，6： | 1 |
| 8 | Disseminated nontuber- culous mycobactefial infection in a child with interferon-gamma recep- tor 1 deficiency显示文摘 | Tsolia M N Chapgier A Taprantzi P | 2006 | Eur J Pediatr2006，165，7： | 1 |
| 9 | Inborn errors of IL-12/23-and IFN-γ-mediated immunity:molecular,cellular,and clinical features显示文摘 | Chapgier A Boisson-Dupuis S Jouanguy E | | 0，，： | 1 |
| 10 | A novel form of cell type- specific partial IFN-gammaRldeficiency caused by a germ line mutation of the IFNGR1 initiation codon 显示文摘 | Kong XF Vog G Chapgier A | 2010 | Hum Mol Genet2010，19，： | 1 |
| 11 | Inborn errors of IL-12/23- and IFN-gamma-mediated immunity molecular, cellular, and clinical features 显示文摘 | Filipe-Santos O Bustamante J Chapgier A | 2006 | Semin Immunol2006，18，6： | 1 |
| 12 | Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo显示文摘 | Chapgier A Wynn RF Jouanguy E et ai | 2006 | J Immunol2006，176，： | 1 |
| 13 | Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations 显示文摘 | Vogt G Chapgier A Yang K | 2005 | Nat Genet2005，37，7： | 1 |
| 14 | A nowel form of cell type-specific partial WN-gammaRl deficiency caused by a germ line mutation of the IFNGRI initiation codon 显示文摘 | Kong XF Vogt G Chapgier A | 2010 | Hum Mol Genet2010，19，3： | 1 |
| 15 | A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiationcodon 显示文摘 | Kong XF Vogt G Chapgier A Lamaze C Bustamante J Prando C Fortin A Puel A Feinberg J Zhang XX Gonnord P Pihkala-Saarincn UM Arola M Moilanen P Abel L Korppi M Boisson-Dupuis S Casanova J | 2010 | Hum Mol Genet2010，19，3： | 1 |
| 16 | Novel STAT1 alleles in otherwise healthy pa- tients with mycobacterial disease 显示文摘 | Chapgier A Boisson-Dupuis S Jouanguy E | 2006 | PLoS Gen- et2006，2，8： | 1 |
| 17 | Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of lFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense显示文摘 | Zhang SY Boisson-Dupuis S Chapgier A et at | 2008 | Immunol Rev2008，226，1： | 1 |
| 18 | BCG-osis and tuberculosis in a child with chronic granulomatous disease 显示文摘 | Bustamante J Aksu G Vogt G de Beaucoudrey L Genel F Chapgier A | 2007 | J Allergy Clin Immunol2007，120，1： | 1 |
| 19 | 在1例γ-干扰素受体1缺乏症患儿的播散性非结核性分枝杆菌感染显示文摘We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing,poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-γreceptor 1 gene (IFNγR1) revealed that he was homozygous for a novel null mutation,453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNγR1 deficiency. The spectrum of IFNγR1 genotypes associated with this immunological disorder is expanding. | Tsolia M.N. Chapgier A. Taprantzi P. 韩浩 | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，0，12： | 0 |
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