[HTML][HTML] Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients
M Morra, M Simarro-Grande, M Martin, ASI Chen… - Journal of Biological …, 2001 - ASBMB
X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency characterized by
extreme susceptibility to Epstein-Barr virus. The XLP disease gene product SH2D1A (SAP)
interacts via its SH2 domain with a motif (TIYXXV) present in the cytoplasmic tail of the cell-
surface receptors CD150/SLAM, CD84, CD229/Ly-9, and CD244/2B4. Characteristically, the
SH2D1A three-pronged interaction with Tyr 281 of CD150 can occur in absence of
phosphorylation. Here we analyze the effect of SH2D1A protein missense mutations …
extreme susceptibility to Epstein-Barr virus. The XLP disease gene product SH2D1A (SAP)
interacts via its SH2 domain with a motif (TIYXXV) present in the cytoplasmic tail of the cell-
surface receptors CD150/SLAM, CD84, CD229/Ly-9, and CD244/2B4. Characteristically, the
SH2D1A three-pronged interaction with Tyr 281 of CD150 can occur in absence of
phosphorylation. Here we analyze the effect of SH2D1A protein missense mutations …