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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Immunology
Subjects:
SAMD9
MIRAGE
immunodeficiency
neutropenia
cytomegalovirus infection
dysphagia
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2019.02194/full

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https://www.frontiersin.org/article/10.3389/fimmu.2019.02194/full

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