Article
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood - 23 Sept 2021
Delmonte Ottavia M, Bergerson Jenna R E, Kawai Tomoki, Kuehn Hye Sun, McDermott David H, Cortese Irene, Zimmermann Michael T, Dobbs A Kerry, Bosticardo Marita, Fink Danielle, Majumdar Shamik, Palterer Boaz, Pala Francesca, Dsouza Nikita R, Pouzolles Marie, Taylor Naomi, Calvo Katherine R, Daley Stephen R, Velez Daniel, Agharahimi Anahita, Myint-Hpu Katherine, Dropulic Lesia K, Lyons Jonathan J, Holland Steven M, Freeman Alexandra F, Ghosh Rajarshi, Similuk Morgan B, Niemela Julie E, Stoddard Jennifer, Kuhns Douglas B, Urrutia Raul, Rosenzweig Sergio D, Walkiewicz Magdalena A, Murphy Philip M, Notarangelo Luigi D
Abstract excerpt
Sterile alpha motif (SAM) and Src homology-3 (SH3) domain-containing 3 (SASH3), also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor protein that is postulated to play an important role in the organization of signaling complexes and propagation of signal transduction cascades in lymphocytes. The SASH3 gene is located on the X-chromosome. Here, we identified 3 novel SASH3 deleterious...
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