Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

[1]  Y. Franke,et al.  The Structural Basis for Class II Cytokine Receptor Recognition by JAK1. , 2016, Structure.

[2]  D. Chaussabel,et al.  Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome , 2015, The Journal of experimental medicine.

[3]  Massimo Gadina,et al.  The JAK-STAT pathway: impact on human disease and therapeutic intervention. , 2015, Annual review of medicine.

[4]  J. Casanova,et al.  Pineal Germinoma in a Child with Interferon-γ Receptor 1 Deficiency. Case Report and Literature Review , 2014, Journal of Clinical Immunology.

[5]  Yibing Shan,et al.  Molecular basis for pseudokinase-dependent autoinhibition of JAK2 tyrosine kinase , 2014, Nature Structural &Molecular Biology.

[6]  Adam R. Johnson,et al.  Structure of the pseudokinase–kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition , 2014, Proceedings of the National Academy of Sciences.

[7]  J. Casanova,et al.  Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015 , 2015, Journal of Clinical Immunology.

[8]  L. Ivashkiv,et al.  Regulation of type I interferon responses , 2013, Nature Reviews Immunology.

[9]  Richard Z. Liu,et al.  JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations , 2013, Scientific Reports.

[10]  Chae Un Kim,et al.  Structure of a pseudokinase domain switch that controls oncogenic activation of Jak kinases , 2013, Nature Structural &Molecular Biology.

[11]  John D Isaacs,et al.  Tofacitinib in Combination With Nonbiologic Disease-Modifying Antirheumatic Drugs in Patients With Active Rheumatoid Arthritis , 2013, Annals of Internal Medicine.

[12]  W. Wilson,et al.  B-Cell Lymphoma in a Patient with Complete Interferon Gamma Receptor 1 Deficiency , 2013, Journal of Clinical Immunology.

[13]  S. Gabriel,et al.  Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants , 2012, Nature.

[14]  Kenny Q. Ye,et al.  An integrated map of genetic variation from 1,092 human genomes , 2012, Nature.

[15]  E. Lee,et al.  Tofacitinib or adalimumab versus placebo in rheumatoid arthritis. , 2012, The New England journal of medicine.

[16]  J. Kremer,et al.  Placebo-controlled trial of tofacitinib monotherapy in rheumatoid arthritis. , 2012, The New England journal of medicine.

[17]  J. Casanova,et al.  Inborn errors of human JAKs and STATs. , 2012, Immunity.

[18]  Q. Wang,et al.  Mutations of PHF6 are associated with mutations of NOTCH1, JAK1 and rearrangement of SET-NUP214 in T-cell acute lymphoblastic leukemia , 2011, Haematologica.

[19]  S. Hubbard,et al.  The pseudokinase domain of JAK2 is a dual-specificity protein kinase that negatively regulates cytokine signaling , 2011, Nature Structural &Molecular Biology.

[20]  J. Renauld,et al.  Oncogenic JAK1 and JAK2-activating mutations resistant to ATP-competitive inhibitors , 2011, Haematologica.

[21]  I. Behrmann,et al.  Jak1 has a dominant role over Jak3 in signal transduction through γc-containing cytokine receptors. , 2011, Chemistry & biology.

[22]  K. Garcia,et al.  Structural snapshots of full-length Jak1, a transmembrane gp130/IL-6/IL-6Rα cytokine receptor complex, and the receptor-Jak1 holocomplex. , 2011, Structure.

[23]  J. Casanova,et al.  Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency , 2010, Journal of Medical Genetics.

[24]  J. Casanova,et al.  Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency , 2010, Journal of Medical Genetics.

[25]  P. Heinrich,et al.  An Unusual Insertion in Jak2 Is Crucial for Kinase Activity and Differentially Affects Cytokine Responses , 2009, The Journal of Immunology.

[26]  J. Casanova,et al.  The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. , 2008, The Journal of allergy and clinical immunology.

[27]  E. Clappier,et al.  Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia , 2008, The Journal of experimental medicine.

[28]  Yang Zhang,et al.  I-TASSER server for protein 3D structure prediction , 2008, BMC Bioinformatics.

[29]  P. Heinrich,et al.  Dual Role of the Jak1 FERM and Kinase Domains in Cytokine Receptor Binding and in Stimulation-Dependent Jak Activation1 , 2008, The Journal of Immunology.

[30]  P. Murray.  The JAK-STAT Signaling Pathway: Input and Output Integration1 , 2007, The Journal of Immunology.

[31]  M. Stratton,et al.  JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. , 2007, The New England journal of medicine.

[32]  T. Morio,et al.  Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. , 2006, Immunity.

[33]  Stefan N. Constantinescu,et al.  A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera , 2005, Nature.

[34]  J. Casanova,et al.  HHV-8–associated Kaposi sarcoma in a child with IFNγR1 deficiency , 2004 .

[35]  O. Silvennoinen,et al.  The Pseudokinase Domain Is Required for Suppression of Basal Activity of Jak2 and Jak3 Tyrosine Kinases and for Cytokine-inducible Activation of Signal Transduction* , 2002, The Journal of Biological Chemistry.

[36]  Jonathan Scott Friedlaender,et al.  A Human Genome Diversity Cell Line Panel , 2002, Science.

[37]  L. Notarangelo,et al.  Complex Effects of Naturally Occurring Mutations in the JAK3 Pseudokinase Domain: Evidence for Interactions between the Kinase and Pseudokinase Domains , 2000, Molecular and Cellular Biology.

[38]  R. Schreiber,et al.  Disruption of the Jak1 Gene Demonstrates Obligatory and Nonredundant Roles of the Jaks in Cytokine-Induced Biologic Responses , 1998, Cell.

[39]  G. Stark,et al.  Kinase‐negative mutants of JAK1 can sustain interferon‐gamma‐inducible gene expression but not an antiviral state. , 1996, The EMBO journal.

[40]  W. Leonard,et al.  Mutation of Jak3 in a Patient with SCID: Essential Role of Jak3 in Lymphoid Development , 1995, Science.

[41]  J. Johnston,et al.  Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) , 1995, Nature.

[42]  G. Stark,et al.  The protein tyrosine kinase JAK1 complements defects in interferon-α/β and -γ signal transduction , 1993, Nature.

[43]  G. Stark,et al.  High-frequency mutagenesis of human cells and characterization of a mutant unresponsive to both alpha and gamma interferons. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[44]  D. Sexton.  Tofacitinib versus methotrexate in rheumatoid arthritis. , 2014, The New England journal of medicine.

[45]  Hsin-Chieh Yeh,et al.  Effect of the 2011 vs 2003 duty hour regulation-compliant models on sleep duration, trainee education, and continuity of patient care among internal medicine house staff: a randomized trial. , 2013, JAMA internal medicine.

[46]  T. Terwilliger,et al.  Engineering and characterization of a superfolder green fluorescent protein , 2006, Nature Biotechnology.

[47]  J. Casanova,et al.  HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency. , 2004, The Journal of pediatrics.

[48]  C. Schindler,et al.  The protein tyrosine kinase JAK1 complements defects in interferon-alpha/beta and -gamma signal transduction. , 1993, Nature.