Article
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
Haematologica - 1 Feb 2021
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
Abstract excerpt
Severe combined immunodeficiencies (SCIDs) 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 three newborns presenting with frequent infections and profound leukopenia, we identified a private, heterozygous...
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