A gain-of-function RAC2 mutation is associated with bone marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency

Svere combined immunodeficiencies (SCID) constitute a heterogeneous group of life-threatening genetic disorders that typically present in the first year of life. They are defined by the absence of autologous T cells and the presence of an intrinsic or extrinsic defect in the B-cell compartment. In t...

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Detalles Bibliográficos
Autores principales: Lagresle-Peyrou, Chantal, Olichon, Aurélien, Sadek, Hanem, Roche, Philippe, Tardy, Claudine, Da Silva, Cindy, Garrigue, Alexandrine, Fischer, Alain, Moshous, Despina, Collette, Yves, Picard, Capucine, Casanova, Jean Laurent, André, Isabelle, Cavazzana, Marina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849581/
https://www.ncbi.nlm.nih.gov/pubmed/31919089
http://dx.doi.org/10.3324/haematol.2019.230250

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7849581/
https://www.ncbi.nlm.nih.gov/pubmed/31919089
http://dx.doi.org/10.3324/haematol.2019.230250

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