Inherited p40phox deficiency differs from classic chronic granulomatous disease
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J. Casanova | S. Vermeire | D. Foell | J. Franco | S. Holland | N. Warner | C. Deswarte | M. Dinauer | T. K. van den Berg | A. Worth | T. Kuijpers | L. Abel | D. Kuhns | A. Corveleyn | S. Burns | I. Meyts | H. Malech | A. Tool | M. de Boer | D. Roos | J. Bustamante | P. Verkuijlen | A. Bernasconi | M. Oleastro | P. Arkwright | J. Vasconcelos | M. Guedes | C. Booth | A. Muise | A. Nieto-Patlán | E. Trindade | C. Hinze | J. Gallin | S. Hughes | K. van Leeuwen | K. Moriya | M. van Houdt | Esmeralda Neves | Felipe Cabarcas | J. Alzate | A. Arias | C. Garcés | H. Wittkowski | A. van de Geer | J. V. van Hamme | P. Ibáñez | Vimel Rattina | Carmen Oleaga-Quintas | F. Charbit-Henrion | Laura Perez | M. Bouaziz | R. Gazendam | M. Moncada-Vélez | Barbara Boardman | V. Batura | N. C. Bensussan | M. E. Azcoiti | Carlos A. Arango-Franco | Jeanette López | Júlia Vasconcelos | M. Moncada-Velez | J. Bustamante
[1] F. Rieux-Laucat,et al. Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study , 2018, Journal of Crohn's & colitis.
[2] A. Schambach,et al. Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections. , 2018, Blood.
[3] J. Casanova,et al. Alanine‐scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss‐ or gain‐of‐function variants , 2017, The Journal of allergy and clinical immunology.
[4] J. Casanova,et al. Visceral leishmaniasis in two patients with IL‐12p40 and IL‐12Rβ1 deficiencies , 2017, Pediatric blood & cancer.
[5] Mallary C Greenlee-Wacker,et al. IFN‐γ targets macrophage‐mediated immune responses toward Staphylococcus aureus , 2017, Journal of leukocyte biology.
[6] M. Dinauer,et al. PI(3)P‐p40phox binding regulates NADPH oxidase activation in mouse macrophages and magnitude of inflammatory responses in vivo , 2017, Journal of leukocyte biology.
[7] R. Gavrieli,et al. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients , 2017, American journal of hematology.
[8] WinterSusann,et al. A Reduction in Intracellular Reactive Oxygen Species Due to a Mutation in NCF4 Promotes Autoimmune Arthritis in Mice. , 2016 .
[9] S. Brant,et al. Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohn's Disease Development in Chronic Granulomatous Disease , 2016, Inflammatory bowel diseases.
[10] J. Casanova,et al. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases. , 2016, The Journal of allergy and clinical immunology.
[11] S. Holland,et al. Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy. , 2016, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[12] T. K. van den Berg,et al. Human Neutrophils Use Different Mechanisms To Kill Aspergillus fumigatus Conidia and Hyphae: Evidence from Phagocyte Defects , 2016, The Journal of Immunology.
[13] L. Bezrodnik,et al. Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry , 2015, Pediatric blood & cancer.
[14] A. Corveleyn,et al. PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome , 2015, Journal of Clinical Immunology.
[15] J. Casanova,et al. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency. , 2015, The Journal of allergy and clinical immunology.
[16] S. Holland,et al. Common severe infections in chronic granulomatous disease. , 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.
[17] A. Mahfoudh,et al. Lupus érythémateux disséminé et granulomatose septique chronique : à propos d’un cas , 2014 .
[18] A. Fischer,et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. , 2014, The Journal of allergy and clinical immunology.
[19] M. Dinauer,et al. Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. , 2014, Journal of clinical & cellular immunology.
[20] R. Holmdahl,et al. Deficient Production of Reactive Oxygen Species Leads to Severe Chronic DSS-Induced Colitis in Ncf1/p47phox-Mutant Mice , 2014, PloS one.
[21] Mallary C Greenlee-Wacker,et al. Phagocytosis of Staphylococcus aureus by Human Neutrophils Prevents Macrophage Efferocytosis and Induces Programmed Necrosis , 2014, The Journal of Immunology.
[22] D. Roos,et al. Molecular diagnosis of chronic granulomatous disease , 2014, Clinical and experimental immunology.
[23] I. Tezcan,et al. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. , 2013, The Journal of allergy and clinical immunology.
[24] M. Dinauer,et al. Regulation of the NADPH Oxidase and Associated Ion Fluxes During Phagocytosis , 2013, Traffic.
[25] Aleksey A. Porollo,et al. Granulocyte macrophage-colony stimulating factor induced Zn sequestration enhances macrophage superoxide and limits intracellular pathogen survival. , 2013, Immunity.
[26] T. K. van den Berg,et al. Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations. , 2013, Blood.
[27] P. Hawkins,et al. Activation of the neutrophil NADPH oxidase by Aspergillus fumigatus , 2012, Annals of the New York Academy of Sciences.
[28] K. Krause,et al. Hyperinflammation of chronic granulomatous disease is abolished by NOX2 reconstitution in macrophages and dendritic cells , 2012, The Journal of pathology.
[29] M. Dinauer,et al. Activation of neutrophil respiratory burst by fungal particles requires phosphatidylinositol 3-phosphate binding to p40(phox) in humans but not in mice. , 2012, Blood.
[30] M. Dinauer,et al. Cutting Edge: NADPH Oxidase Modulates MHC Class II Antigen Presentation by B Cells , 2012, The Journal of Immunology.
[31] R. Xavier,et al. p40phox Expression Regulates Neutrophil Recruitment and Function during the Resolution Phase of Intestinal Inflammation , 2012, The Journal of Immunology.
[32] N. Hunt,et al. Gp91phox contributes to the development of experimental inflammatory bowel disease , 2011, Immunology and cell biology.
[33] S. Holland,et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. , 2011, The Journal of allergy and clinical immunology.
[34] J. Casanova,et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease , 2011, Nature Immunology.
[35] S. Holland,et al. Residual NADPH oxidase and survival in chronic granulomatous disease. , 2010, The New England journal of medicine.
[36] W. Janssen,et al. Impaired Phagocytosis of Apoptotic Cells by Macrophages in Chronic Granulomatous Disease Is Reversed by IFN-γ in a Nitric Oxide-Dependent Manner , 2010, The Journal of Immunology.
[37] J. Casanova,et al. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency , 2010, American journal of medical genetics. Part A.
[38] Xing Jun Li,et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. , 2009, Blood.
[39] Dirk Roos,et al. Chronic Granulomatous Disease: The European Experience , 2009, PloS one.
[40] D. Riches,et al. Impaired apoptotic cell clearance in CGD due to altered macrophage programming is reversed by phosphatidylserine-dependent production of IL-4. , 2009, Blood.
[41] M. Novelli,et al. Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease , 2009, The American Journal of Gastroenterology.
[42] M. Turner,et al. Chronic granulomatous disease as a risk factor for autoimmune disease. , 2008, The Journal of allergy and clinical immunology.
[43] S. Rosenzweig. Inflammatory Manifestations in Chronic Granulomatous Disease (CGD) , 2008, Journal of Clinical Immunology.
[44] V. Wahn,et al. Novel cell death program leads to neutrophil extracellular traps , 2007, The Journal of Cell Biology.
[45] P. Hawkins,et al. Neutrophils from p40phox−/− mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing , 2006, The Journal of experimental medicine.
[46] M. Dinauer,et al. p40phox: the last NADPH oxidase subunit. , 2005, Blood cells, molecules & diseases.
[47] R. Hennekam,et al. Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. , 2005, Blood.
[48] E. Génin,et al. Estimating the age of rare disease mutations: the example of Triple-A syndrome , 2004, Journal of Medical Genetics.
[49] Richard B. Johnston,et al. Chronic Granulomatous Disease: Report on a National Registry of 368 Patients , 2000, Medicine.
[50] S. Holland,et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. , 2000, Medicine.
[51] S. Sehgal,et al. Chronic granulomatous disease. , 1999, Indian pediatrics.
[52] L. Zentilin,et al. Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. , 1998, Journal of immunology.
[53] H. Rosen,et al. Redundant contribution of myeloperoxidase-dependent systems to neutrophil-mediated killing of Escherichia coli , 1997, Infection and immunity.
[54] E. Green,et al. Genomic structure, chromosomal localization, start of transcription, and tissue expression of the human p40-phox, a new component of the nicotinamide adenine dinucleotide phosphate-oxidase complex. , 1996, Blood.
[55] L. V. Van Pelt,et al. Limitations on the use of dihydrorhodamine 123 for flow cytometric analysis of the neutrophil respiratory burst. , 1996, Journal of immunological methods.
[56] A. Segal,et al. Killing of pathogens associated with chronic granulomatous disease by the non-oxidative microbicidal mechanisms of human neutrophils. , 1991, Journal of medical microbiology.
[57] T. Medsger,et al. Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. , 1991, Arthritis and rheumatism.
[58] S. Orkin,et al. The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex , 1987, Nature.
[59] A. Monaco,et al. Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location , 1986, Nature.
[60] A. Segal,et al. Absence of cytochrome b-245 in chronic granulomatous disease. A multicenter European evaluation of its incidence and relevance. , 1983, The New England journal of medicine.
[61] D. Roos,et al. Phagocytosing human neutrophils inactivate their own granular enzymes. , 1981, The Journal of clinical investigation.
[62] J. Repine,et al. Quantitative measurement of the bactericidal capability of neutrophils from patients and carriers of chronic granulomatous disease. , 1977, The Journal of laboratory and clinical medicine.
[63] Schraibman Ig,et al. Letter: Intravenous regional sympathetic block with guanethidine. , 1974 .
[64] R. Lehrer,et al. Interaction of Candida albicans with Human Leukocytes and Serum , 1969, Journal of bacteriology.
[65] R. Good,et al. Fatal granulomatous disease of childhood. An inborn abnormality of phagocytic function. , 1966, Lancet.