title: Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia.
abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous hyperinflammatory syndrome, caused by an uncontrolled and ineffective proliferation and activation of T-lymphocytes, NK-cells, and macrophages that infiltrate multiple organs. Herein, a patient is presented who suffered from hepatitis and atypical brain lesions. Genetic studies revealed a homozygous mutation in the STXP2 gene; and thus, the diagnosis of FHL5 was confirmed.
authors.affiliation: Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.|Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Esmaeilzadeh
authors.affiliation: Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Hasan
authors.initials: MH
authors.lastname: Bemanian
authors.affiliation: Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Nabavi
authors.affiliation: Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Saba
authors.initials: S
authors.lastname: Arshi
authors.affiliation: Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Fallahpour
authors.affiliation: Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany.
authors.forename: Ilka
authors.initials: I
authors.lastname: Fuchs
authors.affiliation: Center for Diagnostic, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
authors.forename: Udo
authors.initials: U
authors.lastname: zur Stadt
authors.affiliation: Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany.
authors.forename: Klaus
authors.initials: K
authors.lastname: Warnatz
authors.affiliation: Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany.
authors.forename: Sandra
authors.initials: S
authors.lastname: Ammann
authors.affiliation: Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
authors.affiliation: Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
authors.forename: Kai
authors.initials: K
authors.lastname: Lehmberg
authors.affiliation: Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.|Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics / Q000276:immunology; D017668:Age of Onset; D001921:Brain / Q000473:pathology; D002648:Child; D017809:Fatal Outcome; D019693:Hepatitis, Autoimmune / Q000235:genetics / Q000276:immunology; D006720:Homozygote; D006801:Humans; D007694:Killer Cells, Natural / Q000276:immunology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008279:Magnetic Resonance Imaging; D008297:Male; D051938:Munc18 Proteins / Q000235:genetics*; D009154:Mutation; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D051938:Munc18 Proteins; C497940:STXBP2 protein, human
keywords: Familial hemophagocytic lymphohistiocytosis; STXBP2; autoimmune hepatitis; brain lesions