A Gain-Of-Function RAC2 Mutation Is Associated With Bone-Marrow Hypoplasia And An Autosomal Dominant Form Of Severe Combined Immunodeficiency

Authors: Chantal Lagresle-Peyrou, Aurélien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Cindy Da Silva, Alexandrine Garrigue, Alain Fischer, Despina Moshous, Yves Collette, Capucine Picard, Jean Laurent Casanova, Isabelle André, Marina Cavazzana

DOI: https://doi.org/10.3324/haematol.2019.230250, 2020

Published in: Haematologica

Tags: Immunology, severe combined immunodeficiencies, SCIDs, T cells, B cells, leukopenia, RAC2 gene, p.G12R, hematopoietic stem cell transplantation, stem cell, gain of function