Erschienen in:
01.01.2015 | Astute Clinician Report
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia
verfasst von:
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
Erschienen in:
Journal of Clinical Immunology
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Ausgabe 1/2015
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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.