A Diagnostic Dilemma: Job Syndrome Mimics Abusive Trauma

Autor: Serbülent Kılıç, Arzu Oto, Orhan Görükmez, Ayşenur Metin

Publikováno v: Journal of Pediatric Emergency and Intensive Care Medicine, Vol 11, Iss 2, Pp 133-136 (2024)

In some cases, making of physical abuse diagnosis can be difficult if the findings were derived from an unusual disease or an unexpected finding of a common disease. A female infant was admitted to emergency department of our hospital, who was suffer

Externí odkaz: https://doaj.org/article/f5415a8843c44f4984decb6d2c990fd0

STAT3 mutation-associated airway epithelial defects in Job syndrome.

Autor: Zhang Y; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass; Departments of Pediatrics, Harvard Medical School, Boston, Mass; Division of Pediatric Pulmonary Medicine, Massachusetts General Hospital for Children, Boston, Mass., Lin T; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass; Departments of Pediatrics, Harvard Medical School, Boston, Mass; Division of Pediatric Pulmonary Medicine, Massachusetts General Hospital for Children, Boston, Mass., Leung HM; Wellman Center for Photomedicine, Massachusetts General Hospital, and the Departments of Pediatrics, Harvard Medical School, Boston, Mass; Department of Pathology, Massachusetts General Hospital, Boston, Mass., Zhang C; Center for Individualized Medicine, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn., Wilson-Mifsud B; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass; Departments of Pediatrics, Harvard Medical School, Boston, Mass; Division of Pediatric Pulmonary Medicine, Massachusetts General Hospital for Children, Boston, Mass., Feldman MB; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherché (INSERM) U1163, Paris, France; Departments of Medicine, Harvard Medical School, Boston, Mass., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherché (INSERM) U1163, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY., Lanternier F; Institut Pasteur, Université Paris Cité, Centre National de Référence des Mycoses Invasives et Antifongiques, Centre National de la Recherche Scientifique, Unite Mixté de Recherche (UMR) 2000, Paris, France; Service de Maladies Infectieuses, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France., Couderc LJ; Respiratory Diseases Department, Foch Hospital, Suresnes, France; Laboratoire Virologie et Immunologie Moléculaires Suresnes, UMR 0892 Paris-Saclay University, Paris, France., Danion F; Department of Infectious Diseases, Centre Hospitalier Universitaire de Strasbourg, Strasbourg, France; Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S 1109, Université de Strasbourg, Strasbourg, France., Catherinot E; Respiratory Diseases Department, Foch Hospital, Suresnes, France., Salvator H; Respiratory Diseases Department, Foch Hospital, Suresnes, France; Laboratoire Virologie et Immunologie Moléculaires Suresnes, UMR 0892 Paris-Saclay University, Paris, France., Tcherkian C; Respiratory Diseases Department, Foch Hospital, Suresnes, France., Givel C; Respiratory Diseases Department, Foch Hospital, Suresnes, France; Laboratoire Virologie et Immunologie Moléculaires Suresnes, UMR 0892 Paris-Saclay University, Paris, France., Xu J; Center for Advanced Models for Translational Sciences and Therapeutics, University of Michigan Medical Center, University of Michigan Medical School, Ann Arbor, Mich., Tearney GJ; Wellman Center for Photomedicine, Massachusetts General Hospital, and the Departments of Pediatrics, Harvard Medical School, Boston, Mass; Department of Pathology, Massachusetts General Hospital, Boston, Mass., Vyas JM; Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital, Boston, Mass; Departments of Medicine, Harvard Medical School, Boston, Mass., Li H; Center for Individualized Medicine, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn., Hurley BP; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass; Departments of Pediatrics, Harvard Medical School, Boston, Mass; Division of Pediatric Pulmonary Medicine, Massachusetts General Hospital for Children, Boston, Mass., Mou H; Mucosal Immunology and Biology Research Center, Massachusetts General Hospital, Boston, Mass; Departments of Pediatrics, Harvard Medical School, Boston, Mass; Division of Pediatric Pulmonary Medicine, Massachusetts General Hospital for Children, Boston, Mass. Electronic address: hmou@mgh.harvard.edu.

Publikováno v: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2023 Aug; Vol. 152 (2), pp. 538-550. Date of Electronic Publication: 2023 Jan 10.

Cold abscess and high IgE beyond Job's syndrome: Four cases of IL-6R deficiency.

Autor: Barman P; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Chawla S; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Sharma J; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Tyagi R; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Karim A; Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Saikia B; Department of Immunopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India., Jindal AK; Allergy Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Publikováno v: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2024 Sep; Vol. 35 (9), pp. e14244.

Unraveling the unphosphorylated STAT3-unphosphorylated NF-κB pathway in loss of function STAT3 Hyper IgE syndrome.

Autor: Karim A; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Garg R; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Saikia B; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Tiwari A; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Sahu S; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Malhotra M; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Minz RW; Department of Immunopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Rawat A; Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Singh S; Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India., Suri D; Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Publikováno v: Frontiers in immunology [Front Immunol] 2024 Aug 20; Vol. 15, pp. 1332817. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024).

Neutrophil-avid nanocarrier uptake by STAT3 dominant-negative hyper-IgE syndrome patient neutrophils.

Autor: Rubey KM; https://ror.org/01z7r7q48 Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA rubeyk@chop.edu., Freeman A; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Mukhitov AR; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Paris AJ; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Lin SM; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Rue R; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Fazelinia H; https://ror.org/01z7r7q48 The Proteomics Core Facility, The Children's Hospital of Philadelphia, Research Institute, Philadelphia, PA, USA., Spruce LA; https://ror.org/01z7r7q48 The Proteomics Core Facility, The Children's Hospital of Philadelphia, Research Institute, Philadelphia, PA, USA., Roof J; https://ror.org/01z7r7q48 The Proteomics Core Facility, The Children's Hospital of Philadelphia, Research Institute, Philadelphia, PA, USA., Brenner JS; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pharmacology, University of Pennsylvania, Philadelphia, PA, USA., Heimall J; https://ror.org/01z7r7q48 Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Krymskaya VP; Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publikováno v: Life science alliance [Life Sci Alliance] 2024 Aug 12; Vol. 7 (11). Date of Electronic Publication: 2024 Aug 12 (Print Publication: 2024).