Autoimmune lymphoproliferative syndrome–like disease with somatic KRAS mutation-Reference-Cited by-同舟云学术

Autoimmune lymphoproliferative syndrome–like disease with somatic KRAS mutation

Published:2011-03-10 Issue:10 Volume:117 Page:2887-2890
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Takagi Masatoshi¹,Shinoda Kunihiro²,Piao Jinhua¹,Mitsuiki Noriko¹,Takagi Mari²,Matsuda Kazuyuki³,Muramatsu Hideki⁴,Doisaki Sayoko⁴,Nagasawa Masayuki¹,Morio Tomohiro¹,Kasahara Yoshihito⁵,Koike Kenichi⁶,Kojima Seiji⁴,Takao Akira²,Mizutani Shuki¹

Affiliation:

1. Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan;

2. Department of Pediatrics, Gifu Municipal Hospital, Gifu, Japan;

3. Department of Laboratory Medicine, Shinshu University School of Medicine, Nagano, Japan;

4. Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan;

5. Department of Laboratory Sciences, Kanazawa University School of Health Sciences, Ishikawa, Japan; and

6. Department of Pediatrics, Shinshu University School of Medicine, Nagano, Japan

Abstract

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).

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/117/10/2887/1334134/zh801011002887.pdf

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4. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop.;Oliveira;Blood,2010

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