Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

Hossein Esmaeilzadeh; Mohammad Hasan Bemanian; Mohammad Nabavi; Saba Arshi; Morteza Fallahpour; Ilka Fuchs; Udo zur Stadt; Klaus Warnatz; Sandra Ammann; Stephan Ehl; Kai Lehmberg; Nima Rezaei

doi:10.1007/s10875-014-0119-z

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

J Clin Immunol. 2015 Jan;35(1):22-5. doi: 10.1007/s10875-014-0119-z. Epub 2014 Dec 10.

Authors

Affiliations

¹ Department of Allergy and Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran.
² Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
³ Centre of Chronic Immunodeficiency (CCI), University Medical Centre, Freiburg, Germany.
⁴ Center for Diagnostic, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
⁵ Department of Pediatric Hematology and Oncology, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
⁶ Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.
⁷ Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir.

PMID: 25491289
DOI: 10.1007/s10875-014-0119-z

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.

Keywords: Familial hemophagocytic lymphohistiocytosis; STXBP2; autoimmune hepatitis; brain lesions.

Publication types

Case Reports

MeSH terms

Agammaglobulinemia / genetics
Agammaglobulinemia / immunology
Age of Onset
Brain / pathology
Child
Fatal Outcome
Hepatitis, Autoimmune / genetics
Hepatitis, Autoimmune / immunology
Homozygote
Humans
Killer Cells, Natural / immunology
Lymphohistiocytosis, Hemophagocytic / diagnosis
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphohistiocytosis, Hemophagocytic / immunology
Magnetic Resonance Imaging
Male
Munc18 Proteins / genetics*
Mutation
T-Lymphocytes / immunology

Substances

Munc18 Proteins
STXBP2 protein, human

Supplementary concepts

Hemophagocytic Lymphohistiocytosis, Familial, 5