Demyelination with hemophagocytic lymphohistiocytosis of the CNS
β Scribed by Carol A. Miller; Ira Shulman; Clive Taylor
- Publisher
- Springer-Verlag
- Year
- 1981
- Tongue
- English
- Weight
- 738 KB
- Volume
- 54
- Category
- Article
- ISSN
- 0001-6322
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We report on a new patient with deletion of 22q11 associated with hemophagocytic lymphohistiocytosis and a fatal outcome. She had minor facial anomalies and cardiac malformation corresponding to those described in del (22q11) syndrome, normal T and B cell function and NK activity; bone marrow aspira
## Abstract Since the discovery of __perforin__ gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) type 2, heterogeneous features in FHL2 patients have been identified in a report of Feldmann et al. as the beginning. This study was conducted to determine the impact of characteristi