Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

doi:10.1007/s10875-015-0163-3

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Article

Somatic mosaicism for a NRAS mutation associates with disparate clinical features in RAS-associated leukoproliferative disease: a report of two cases.

Journal of clinical immunology - 1 Jul 2015

Shiota Mitsutaka, Yang Xi, Kubokawa Mei, Morishima Tatsuya, Tanaka Kuniaki, Mikami Masamitsu, Yoshida Kenichi, Kikuchi Masako, Izawa Kazushi, Nishikomori Ryuta, Okuno Yusuke, Wang Xian, Sakaguchi Hirotoshi, Muramatsu Hideki, Kojima Seiji, Miyano Satoru, Ogawa Seishi, Takagi Masatoshi, Hata Daisuke, Kanegane Hirokazu

Abstract excerpt

RAS-associated leukoproliferative disease (RALD) is a newly classified disease; thus its clinical features and management are not fully understood. The cases of two patients with characteristic features of RALD are described herein. Patient 1 was a 5-month-old female with clinical features typical of autoimmune lymphoproliferative syndrome (ALPS) and markedly elevated TCRαβ(+)CD4(-)CD8(-) T cell numbers. Genetic...

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Identifiers

PMID: 25896945
DOI: 10.1007/s10875-015-0163-3

Genes

NRAS

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