Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement-Reference-Cited by-同舟云学术

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

Published:2019-09-18 Issue: Volume:10 Page:
ISSN:1664-3224
Container-title:Frontiers in Immunology
language:
Short-container-title:Front. Immunol.

Author:

Formankova Renata,Kanderova Veronika,Rackova Marketa,Svaton Michael,Brdicka Tomas,Riha Petr,Keslova Petra,Mejstrikova Ester,Zaliova Marketa,Freiberger Tomas,Grombirikova Hana,Zemanova Zuzana,Vlkova Marcela,Fencl Filip,Copova Ivana,Bronsky Jiri,Jabandziev Petr,Sedlacek Petr,Soukalova Jana,Zapletal Ondrej,Stary Jan,Trka Jan,Kalina Tomas,Skvarova Kramarzova Karolina,Hlavackova Eva,Litzman Jiri,Fronkova Eva

Funder

Univerzita Karlova v Praze

Ministerstvo Zdravotnictví Ceské Republiky

Ministerstvo Školství, Mládeže a Tělovýchovy

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference19 articles.

1. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7;Narumi;Nat Genet.,2016

2. Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans;Buonocore;J Clin Invest.,2017

3. Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome;Schwartz;Leukemia.,2017