Article
Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.
Blood - 22 Oct 2020
Molnár Emese, Radwan Nesrine, Kovács Gábor, Andrikovics Hajnalka, Henriquez Frances, Zarafov Anton, Hayman Matthew, Linzner Daniela, Thrasher Adrian J, Buckland Matthew, Burns Siobhan O, Gilmour Kimberly C
Abstract excerpt
Autoimmune lymphoproliferative syndrome (ALPS) is a rare immunodeficiency caused by mutations in genes affecting the extrinsic apoptotic pathway (FAS, FASL, CASP10). This study evaluated the clinical manifestations, laboratory findings, and molecular genetic results of 215 patients referred as possibly having ALPS. Double-negative T-cell (DNT) percentage and in vitro apoptosis functional tests were evaluated by...
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