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
10.3389/fimmu.2019.02194
Front Immunol
2019 Sep 18;10:2194.
mirage samd9 cytomegalovirus infection dysphagia gastrointestinal disorder hematopoietic stem cell transplantation immunodeficiency neutropenia
CC BY
https://pubmed.ncbi.nlm.nih.gov/31620126/
Immunologic Deficiency Syndromes / genetics Neutropenia / genetics Smad8 Protein / genetics
Immunologic Deficiency Syndromes / genetics Neutropenia / genetics Smad8 Protein / genetics Case Reports Research Support, Non-U.S. Gov't Child, Preschool Cytomegalovirus Infections / genetics Cytomegalovirus Infections / immunology Humans Infant Male Mutation SMAD9 protein, human Smad8 Protein
PMC6759462
31620126
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement
2019