학술논문
Familial hemophagocytic lymphohistiocytosis: from macrophage activation syndrome to CLIPPERS.
Document Type
Article
Author
Source
Subject
*HEMOPHAGOCYTIC lymphohistiocytosis
*KILLER cells
*CYTOTOXIC T cells
*MACROPHAGE activation syndrome
*MYELIN oligodendrocyte glycoprotein
*SARCOIDOSIS
*NERVE conduction studies
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Language
ISSN
0340-5354
Abstract
This article discusses a case study of a patient who presented with symptoms of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) preceded by macrophage activation syndrome (MAS). The patient was found to have a homozygous hypomorphic mutation in the PRF1 gene associated with familial hemophagocytic lymphohistiocytosis (fHLH). The study suggests that CLIPPERS features may be seen in patients with fHLH gene mutations and highlights the importance of screening for fHLH in patients with CLIPPERS, especially those with atypical CNS findings or systemic signs of HLH. The use of anti-TNF-alpha therapy may be considered as a steroid-sparing treatment option for these patients. [Extracted from the article]