Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

Mutations in the Sterile alpha motif domain containing 9 (SAMD9) gene have been described in patients with severe multisystem disorder, MIRAGE syndrome, but also in patients with bone marrow (BM) failure in the absence of other systemic symptoms. The role of hematopoietic stem cell transplantation (...

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Principais autores:	Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Jiri Litzman, Eva Fronkova
格式:	Artigo
语言:	Inglês
出版:	Frontiers Media S.A. 2019-09-01
丛编:	Frontiers in Immunology
主题:	SAMD9 MIRAGE immunodeficiency neutropenia cytomegalovirus infection dysphagia
在线阅读:	https://www.frontiersin.org/article/10.3389/fimmu.2019.02194/full
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