A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
Lagresle-Peyrou C, Olichon A, Sadek H, Roche P, Tardy C, Da Silva C, Garrigue A, Fischer A, Moshous D, Collette Y, Picard C, Casanova JL, André I, Cavazzana M.
Lagresle-Peyrou C, et al. Among authors: olichon a.
Haematologica. 2021 Feb 1;106(2):404-411. doi: 10.3324/haematol.2019.230250.
Haematologica. 2021.
PMID: 31919089
Free PMC article.