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Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing.

Abstract:

Hemophagocytic lymphohistiocytosis (HLH) composes a group of rare heterogenous disorders characterized by uncontrolled accumulation and infiltration of activated T lymphocytes and macrophages. Cytotoxic T and natural killer cell activity is significantly reduced or absent in these patients. Mutations in the important mediator of lymphocyte cytotoxicity perforin were identified in a number of HLH individuals. Here we report a novel missense mutation thr435met in the conserved Ca(2+) binding do...

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Publisher copy:
10.1002/ajmg.a.10010

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
NDM Experimental Medicine
Role:
Author
Journal:
American journal of medical genetics. Part A More from this journal
Volume:
117A
Issue:
3
Pages:
255-260
Publication date:
2003-03-01
DOI:
EISSN:
1552-4833
ISSN:
1552-4825

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