Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

[1]  B. Grimbacher,et al.  What did we learn from CTLA‐4 insufficiency on the human immune system? , 2018, Immunological reviews.

[2]  J. Casanova,et al.  Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant , 2018, Science Immunology.

[3]  J. Casanova,et al.  Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23 , 2018, Science Immunology.

[4]  O. Elemento,et al.  Phenotype, penetrance, and treatment of 133 cytotoxic T‐lymphocyte antigen 4–insufficient subjects , 2018, The Journal of allergy and clinical immunology.

[5]  J. Casanova,et al.  Mendelian susceptibility to mycobacterial disease: 2014–2018 update , 2018, Immunology and cell biology.

[6]  J. Casanova,et al.  A purely quantitative form of partial recessive IFN‐&ggr;R2 deficiency caused by mutations of the initiation or second codon , 2018, Human molecular genetics.

[7]  J. Casanova,et al.  Disruption of an anti-mycobacterial circuit between dendritic and Th cells in human SPPL2a deficiency , 2018, Nature Immunology.

[8]  L. Stronati,et al.  NOD2 and inflammation: current insights , 2018, Journal of inflammation research.

[9]  C. Foster,et al.  A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis , 2018, Ocular immunology and inflammation.

[10]  N. Kanazawa,et al.  A Case of Blau Syndrome with NOD2 E383K Mutation , 2016, Pediatric dermatology.

[11]  Huy A. Nguyen,et al.  Role for NOD2 in Mycobacterium tuberculosis‐induced iNOS expression and NO production in human macrophages , 2015, Journal of leukocyte biology.

[12]  P. Tighe,et al.  Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. , 2015, Reumatismo.

[13]  H. Rosenzweig,et al.  Blau Syndrome–Associated Nod2 Mutation Alters Expression of Full-Length NOD2 and Limits Responses to Muramyl Dipeptide in Knock-in Mice , 2015, The Journal of Immunology.

[14]  J. Casanova,et al.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. , 2014, Seminars in immunology.

[15]  J. Bertin,et al.  Blau Syndrome, the prototypic auto-inflammatory granulomatous disease , 2014, Pediatric Rheumatology.

[16]  Y. Ohya,et al.  Augmentation of antitubercular therapy with IFNγ in a patient with dominant partial IFNγ receptor 1 deficiency. , 2014, Clinical immunology.

[17]  D. Philpott,et al.  NOD proteins: regulators of inflammation in health and disease , 2013, Nature Reviews Immunology.

[18]  A. Cava Common variable immunodeficiency: two mutations are better than one , 2013 .

[19]  R. Xavier,et al.  Bacille Calmette-Guérin induces NOD2-dependent nonspecific protection from reinfection via epigenetic reprogramming of monocytes , 2012, Proceedings of the National Academy of Sciences.

[20]  Jianping Xie,et al.  NOD2 Signaling and Role in Pathogenic Mycobacterium Recognition, Infection and Immunity , 2012, Cellular Physiology and Biochemistry.

[21]  Pablo Cingolani,et al.  Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift , 2012, Front. Gene..

[22]  Christopher A. Miller,et al.  VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. , 2012, Genome research.

[23]  C. Wouters,et al.  Blau syndrome revisited , 2011, Current opinion in rheumatology.

[24]  Murugesan V. S. Rajaram,et al.  NOD2 controls the nature of the inflammatory response and subsequent fate of Mycobacterium tuberculosis and M. bovis BCG in human macrophages , 2011, Cellular microbiology.

[25]  Chan-Wook Woo,et al.  Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome , 2010, Rheumatology International.

[26]  Gonçalo R. Abecasis,et al.  The Sequence Alignment/Map format and SAMtools , 2009, Bioinform..

[27]  C. Wouters,et al.  Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. , 2009, Arthritis and rheumatism.

[28]  J. Yagüe,et al.  NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. , 2009, Arthritis and rheumatism.

[29]  J. Rosenbaum,et al.  The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. , 2009, Arthritis and rheumatism.

[30]  A. Smahi,et al.  TLR3 Deficiency in Patients with Herpes Simplex Encephalitis , 2007, Science.

[31]  J. Casanova,et al.  Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features , 2006 .

[32]  J. Casanova,et al.  Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease , 2006, PLoS genetics.

[33]  M. Netea,et al.  NOD2 and Toll-Like Receptors Are Nonredundant Recognition Systems of Mycobacterium tuberculosis , 2005, PLoS pathogens.

[34]  S. Holland,et al.  Defects in the interferon‐γ and interleukin‐12 pathways , 2005, Immunological reviews.

[35]  M. Newport,et al.  Clinical features of dominant and recessive interferon γ receptor 1 deficiencies , 2004, The Lancet.

[36]  A. Utani,et al.  Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. , 2004, Blood.

[37]  E. Mallon,et al.  Juvenile sarcoidosis after BCG vaccination. , 2003, Journal of the American Academy of Dermatology.

[38]  P. Rosenstiel,et al.  TNF-α and IFN-γ regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells ☆ ☆☆ ★ ★★ ♢ , 2003 .

[39]  M. Chamaillard,et al.  Nod2 Is a General Sensor of Peptidoglycan through Muramyl Dipeptide (MDP) Detection* , 2003, The Journal of Biological Chemistry.

[40]  J. Blackwell,et al.  BCG-induced increase in interferon-gamma response to mycobacterial antigens and efficacy of BCG vaccination in Malawi and the UK: two randomised controlled studies , 2002, The Lancet.

[41]  G. Thomas,et al.  CARD15 mutations in Blau syndrome , 2001, Nature Genetics.

[42]  J. Casanova,et al.  High Levels of Interferon Gamma in the Plasma of Children With Complete Interferon Gamma Receptor Deficiency , 2001, Pediatrics.

[43]  J. Casanova,et al.  Interferon-γ receptor deficiency: An expanding clinical phenotype? , 1999 .

[44]  S. Dorman,et al.  A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection , 1999, Nature Genetics.

[45]  J. Casanova,et al.  Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. , 1997, The Journal of clinical investigation.

[46]  J. Casanova,et al.  CORRELATION OF GRANULOMA STRUCTURE WITH CLINICAL OUTCOME DEFINES TWO TYPES OF IDIOPATHIC DISSEMINATED BCG INFECTION , 1997, The Journal of pathology.

[47]  M. Newport,et al.  A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. , 1996, The New England journal of medicine.

[48]  U. Andersson,et al.  Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. , 1991, Blood.

[49]  T. Nakahata,et al.  Pluripotent stem cell models of Blau syndrome reveal an IFN‐&ggr;–dependent inflammatory response in macrophages , 2018, The Journal of allergy and clinical immunology.

[50]  P. Arkwright Phenotype, penetrance, and treatment of 133 CTLA-1 4-insufficient individuals , 2018 .

[51]  G. Keskindemirci,et al.  Coexistence of early onset sarcoidosis and partial interferon-γ receptor 1 deficiency. , 2016, The Turkish journal of pediatrics.

[52]  J. Bertin,et al.  Blau syndrome : cross-sectional data from a multicentre study of clinical , radiological and functional outcomes , 2015 .

[53]  A. Fischer,et al.  Immune deficiencies , infection , and systemic immune disorders Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2 – related disorders Blau syndrome and Crohn disease , 2012 .

[54]  T. Nakahata,et al.  A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene. , 2010, Rheumatology.

[55]  T. Nakahata,et al.  Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. , 2009, Arthritis and rheumatism.

[56]  Claude-Alain H. Roten,et al.  Fast and accurate short read alignment with Burrows–Wheeler transform , 2009, Bioinform..

[57]  J. Casanova,et al.  Interferon-gamma receptor deficiency: An expanding clinical phenotype? , 1999, Jornal de Pediatria.