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

Author(s): 
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
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.

URL: 
https://www.ncbi.nlm.nih.gov/pubmed/?term=Novel+Patient+with+Late-Onset+Familial+Hemophagocytic+Lymphohistiocytosis+with+STXBP2+Mutations+Presenting+with+Autoimmune+Hepatitis%2C+Neurological+Manifestations+and+Infections+Associated+with+Hypogammaglobulinemia

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