This special issue contains four review articles that describe advances in analysis of mutations responsible for the autoimmune lymphoproliferative syndrome (ALPS). This disease is triggered by a family of mutations in genes involved in the extrinsic apoptotic pathway such as FAS, FASL and CASP10. Advances in sequencing technology have enabled extended genetic testing of patients with various defects in alternative biological have pathways that can cause ALPS-like syndromes. Various gene mutations were identified which affect the CTLA-4 immune checkpoint, the STAT3 pathway and the RAS/MAPK pathway. Tips gleaned from analyses of the different gene mutations involved in ALPS and ALPS-like syndromes are contributing to a better understanding of their functional consequences. Genetic diagnoses of the disease should help us to identify specific therapeutic targets and design personalized treatment for each patient.
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| http://dx.doi.org/10.1016/j.bj.2021.08.002 | DOI Listing |
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Article Synopsis
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- - A 10-year-old boy with partial DGS experienced chronic immune thrombocytopenia and cytopenias despite using standard treatments, prompting genetic testing which confirmed a significant chromosomal deletion.
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