Tehran University of Medical Sciences

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Novel Patient With Late-Onset Familial Hemophagocytic Lymphohistiocytosis With Stxbp2 Mutations Presenting With Autoimmune Hepatitis, Neurological Manifestations and Infections Associated With Hypogammaglobulinemia Publisher Pubmed



Esmaeilzadeh H1, 2 ; Bemanian MH1 ; Nabavi M1 ; Arshi S1 ; Fallahpour M1 ; Fuchs I3 ; Zur Stadt U4 ; Warnatz K3 ; Ammann S3 ; Ehl S3 ; Lehmberg K5 ; Rezaei N6
Authors

Source: Journal of Clinical Immunology Published:2015


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. © 2014, Springer Science+Business Media New York.