Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology
Link
https://link.springer.com/content/pdf/10.1007/s12026-023-09411-2.pdf
Reference11 articles.
1. Casamayor-Polo L, López-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM. Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). Crit Rev Clin Lab Sci. 2021;58(4):253–74.
2. Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, et al. Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. Am J Hum Genet. 1999;64(4):1002–14.
3. Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010;116:e35-40.
4. Bleesing JJ, Brown MR, Novicio C, Guarraia D, Dale JK, Straus SE, et al. A composite picture of TcR alpha/beta(+) CD4(-)CD8(-) T Cells (alpha/beta-DNTCs) in humans with autoimmune lymphoproliferative syndrome. Clin Immunol. 2002;104(1):21–30.
5. Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, et al. Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. Blood. 2016;127(18):2193–202.
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