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Blood. 2011 Mar 10;117(10):2887-90. doi: 10.1182/blood-2010-08-301515. Epub 2010 Nov 9.

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.

Author information

1
Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan. m.takagi.ped@tmd.ac.jp

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is classically defined as a disease with defective FAS-mediated apoptosis (type I-III). Germline NRAS mutation was recently identified in type IV ALPS. We report 2 cases with ALPS-like disease with somatic KRAS mutation. Both cases were characterized by prominent autoimmune cytopenia and lymphoadenopathy/splenomegaly. These patients did not satisfy the diagnostic criteria for ALPS or juvenile myelomonocytic leukemia and are probably defined as a new disease entity of RAS-associated ALPS-like disease (RALD).

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PMID:
21063026
DOI:
10.1182/blood-2010-08-301515
[Indexed for MEDLINE]
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