THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1AVERBUCH, Diana; CHAPGIER, Ariane; BOISSON-DUPUIS, Stéphanie et al.The Pediatric infectious disease journal. 2011, Vol 30, Num 4, pp 352-355, issn 0891-3668, 4 p.Article

Induction of MxA gene expression by influenza a virus requires type I or type III interferon signalingHOLZINGER, Dirk; JORNS, Carl; STERTZ, Silke et al.Journal of virology. 2007, Vol 81, Num 14, pp 7776-7785, issn 0022-538X, 10 p.Article

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE SyndromeKILIC, Sara S; HACIMUSTAFAOGLU, Mustafa; BOISSON-DUPUIS, Stéphanie et al.The Journal of pediatrics. 2012, Vol 160, Num 6, pp 1055-1057, issn 0022-3476, 3 p.Article

Multifocal Tuberculous Osteomyelitis: Possible Inherited Interferon Gamma Axis DefectNAMPOOTHIRI, Sheela; SINGH, Surjit; PARAMESWARAN NAMPOOTHIRI, K. N et al.Indian journal of pediatrics. 2013, Vol 80, Num 6, pp 505-508, issn 0019-5456, 4 p.Article

Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiencyTOYODA, Hidemi; IDO, Masaru; BOISSON-DUPUIS, Stéphanie et al.Journal of medical genetics. 2010, Vol 47, Num 9, pp 631-634, issn 0022-2593, 4 p.Article

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO proteinHUBEAU, Marjorie; NGADJEUA, Flora; BOISSON-DUPUIS, Stéphanie et al.Blood. 2011, Vol 118, Num 4, pp 926-935, issn 0006-4971, 10 p.Article

A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptorsFIESCHI, Claire; BOSTICARDO, Marita; DE BEAUCOUDREY, Ludovic et al.Blood. 2004, Vol 104, Num 7, pp 2095-2101, issn 0006-4971, 7 p.Article

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codonKONG, Xiao-Fei; VOGT, Guillaume; GONNORD, Pauline et al.Human molecular genetics (Print). 2010, Vol 19, Num 3, pp 434-444, issn 0964-6906, 11 p.Article

A novel form of human STAT1 deficiency impairing early but not late responses to interferonsKONG, Xiao-Fei; CIANCANELLI, Michael; KREINS, Alexandra et al.Blood. 2010, Vol 116, Num 26, pp 5895-5906, issn 0006-4971, 12 p.Article

Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 DeficiencyBOGUNOVIC, Dusan; BYUN, Minji; MANSOURI, Nahal et al.Science (Washington, D.C.). 2012, Vol 337, Num 6102, pp 1684-1688, issn 0036-8075, 5 p.Article

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 DeficiencyPRANDO, Carolina; BOISSON-DUPUIS, Stéphanie; QIUPING ZHANG et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 622-629, issn 1552-4825, 8 p.Article

Les mutations gain de glycosylation = Gains of glycosylation mutationsVOGT, Guillaume; CHAPGIER, Ariane; CHUZHANOVA, Nadia et al.MS. Médecine sciences. 2006, Vol 22, Num 5, pp 480-482, issn 0767-0974, 3 p.Article

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsVOGT, Guillaume; CHAPGIER, Ariane; DE BEAUCOUDREY, Ludovic et al.Nature genetics. 2005, Vol 37, Num 7, pp 692-700, issn 1061-4036, 9 p.Article

IRF8 Mutations and Human Dendritic-Cell ImmunodeficiencyHAMBLETON, Sophie; SALEM, Sandra; MENON, Geetha et al.The New England journal of medicine. 2011, Vol 365, Num 2, pp 127-138, issn 0028-4793, 12 p.Article

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindredsSOLOGUREN, Ithaisa; BOISSON-DUPUIS, Stéphanie; SANTIAGO, Esther et al.Human molecular genetics (Print). 2011, Vol 20, Num 8, pp 1509-1523, issn 0964-6906, 15 p.Article

Primary immunodeficiencies of protective immunity to primary infectionsBOUSFIHA, Aziz; PICARD, Capucine; CASANOVA, Jean-Laurent et al.Clinical immunology (Orlando, Fla. Print). 2010, Vol 135, Num 2, pp 204-209, issn 1521-6616, 6 p.Article

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCYMOILANEN, Petra; KORPPI, Matti; HOVI, Liisa et al.The Pediatric infectious disease journal. 2009, Vol 28, Num 7, pp 658-660, issn 0891-3668, 3 p.Article

Inborn errors of interferon (IFN)-mediated immunity in humans : insights into the respective roles of IFN-α/β, IFN-y, and IFN-λ in host defenseZHANG, Shen-Ying; BOISSON-DUPUIS, Stéphanie; CHAPGIER, Ariane et al.Immunological reviews. 2008, Vol 226, pp 29-40, issn 0105-2896, 12 p.Article

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial diseaseGRANT, Audrey V; BOISSON-DUPUIS, Stephanie; CAMCIOGLU, Yildiz et al.Journal of medical genetics. 2011, Vol 48, Num 8, pp 567-571, issn 0022-2593, 5 p.Article

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in MoroccoSABRI, Ayoub; GRANT, Audrey V; BENKIRANE, Majid et al.The Journal of infectious diseases. 2014, Vol 210, Num 4, pp 611-618, issn 0022-1899, 8 p.Article

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8⁺ T-cell memory formation and functionIVES, Megan L; MA, Cindy S; ROESLER, Joachim et al.Journal of allergy and clinical immunology. 2013, Vol 132, Num 2, pp 400-411, issn 0091-6749, 12 p.Article

Functional STAT3 deficiency compromises the generation of human T follicular helper cellsMA, Cindy S; AVERY, Danielle T; MAGDORF, Klaus et al.Blood. 2012, Vol 119, Num 17, pp 3997-4008, issn 0006-4971, 12 p.Article

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 DeficiencyOUEDERNI, Monia; SANAL, Ozden; COLINO, Elena et al.Clinical infectious diseases. 2014, Vol 58, Num 2, pp 204-213, issn 1058-4838, 10 p.Article