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Reports Outline Lupus Research from Baylor University (Case Report: p40phox deficiency underlying pediatric-onset systemic lupus erythematosus).

Publikováno v: Genomics & Genetics Weekly; 9/6/2024, p1131-1131, 1p

Inherited p40phox Deficiency Differs From Classic Chronic Granulomatous Disease

Autor: Luke A. Wall

Publikováno v: Pediatrics. 144:S60-S61

A van de Geer, A Nieto–Patlan, DB Kuhns. J Clin Invest. 2018;128(9):3957–3975 To characterize clinical and laboratory aspects of p40phox deficiency, a unique autosomal recessive form of chronic granulomatous disease (CGD) previously described in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6600b1aaa1a1f541e7a08d7fd2fabf13
https://doi.org/10.1542/peds.2019-2461mmmm

Inherited p40phox deficiency differs from classic chronic granulomatous disease.

Autor: van de Geer A; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Nieto-Patlán A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico., Kuhns DB; Neutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, Maryland, USA., Tool AT; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Arias AA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia., Bouaziz M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., de Boer M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Gazendam RP; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Hamme JL; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Houdt M; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van Leeuwen K; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Verkuijlen PJ; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., van den Berg TK; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Molecular Cell Biology and Immunology, VU Medical Center, VU University, Amsterdam, Netherlands., Alzate JF; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia., Arango-Franco CA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and.; School of Microbiology, University of Antioquia, Medellin, Colombia., Batura V; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada., Bernasconi AR; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Boardman B; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Booth C; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom., Burns SO; Institute of Immunity and Transplantation, University College London, London, United Kingdom.; Department of Clinical Immunology, Royal Free London, NHS Foundation Trust, London, United Kingdom., Cabarcas F; National Center for Genomic Sequencing - CNSG-SIU, School of Medicine, University of Antioquia, Medellin, Colombia.; SISTEMIC Group, Electronic Engineering Department, University of Antioquia, Medellin, Colombia., Bensussan NC; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France., Charbit-Henrion F; Laboratory of Intestinal Immunity, INSERM U1163, Imagine Institute, Paris, France.; GENIUS group (GENetically ImmUne-mediated enteropathieS) of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN).; Paris Descartes University, Paris, France.; Pediatric Gastroenterology, Hepatology and Nutrition Unit, AP-HP, Necker Hospital for Sick Children, Paris, France., Corveleyn A; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Azcoiti ME; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Department of Immunology, Ricardo Gutierrez Children's Hospital, Buenos Aires, Argentina., Foell D; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Gallin JI; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA., Garcés C; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Guedes M; Department of Pediatrics, Santo Antonio Hospital, Porto, Portugal., Hinze CH; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Holland SM; Laboratory of Clinical Infectious Diseases, NIAID, NIH, Bethesda, Maryland, USA., Hughes SM; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Ibañez P; Inflammatory Bowel Disease Program, Gastroenterology Department, Clinic Las Condes Medical Center, University of Chile, Santiago de Chile, Chile., Malech HL; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, Maryland, USA., Meyts I; Department of Pediatric Hematology and Oncology and.; Department of Microbiology and Immunology, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Moncada-Velez M; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, and., Moriya K; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Neves E; Department of Immunology, Santo Antonio Hospital, Porto, Portugal., Oleastro M; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Perez L; Service of Immunology and Rheumatology, Garrahan National Pediatric Hospital, Buenos Aires, Argentina., Rattina V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Oleaga-Quintas C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France., Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and., Muise AM; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, and.; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada., López JS; Department of Immunology, National School of Biological Science, National Polytechnic Institute, ENCB - IPN, Mexico., Trindade E; Pediatric Gastroenterology Unit, Sao Joao Hospital, Porto, Portugal., Vasconcelos J; Department of Immunology, Santo Antonio Hospital, Porto, Portugal., Vermeire S; Division of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium.; Department of Experimental Medicine, KU Leuven, Leuven, Belgium., Wittkowski H; Department of Pediatric Rheumatology and Immunology, Munster University Hospital, Munster, Germany., Worth A; Department of Immunology, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA., Dinauer MC; Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri, USA., Arkwright PD; Department of Pediatric Allergy and Immunology, Royal Manchester Children's Hospital, University of Manchester, Manchester, United Kingdom., Roos D; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, New York, USA.; Pediatric Hematology and Immunology Unit, AP-HP, Necker Hospital for Sick Children, Paris, France., Kuijpers TW; Department of Blood Cell Research, Sanquin Research, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.; Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam, Netherlands.; Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; Paris Descartes University, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2018 Aug 31; Vol. 128 (9), pp. 3957-3975. Date of Electronic Publication: 2018 Aug 06.

Perianal Disease and Granulomas: Think Out of the Box…

Autor: Ana Reis-Melo, Maria do Céu Espinheira, Isabel Pinto-Pais, Artur Bonito Vitor, Jacinta Bustamante, Eunice Trindade

Publikováno v: GE: Portuguese Journal of Gastroenterology, Pp 1-5 (2019)

Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency due to a malfunction of NADPH oxidase. It is characterized by recurrent and severe infections caused by catalase-positive microorganisms and autoinflammatory manifestations

Externí odkaz: https://doaj.org/article/3e8ef54aafb94e6f9b3da91fd3ca5900