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oai:docta.ucm.es:20.500.14352/1142152025-01-15T00:58:13Zcom_20.500.14352_14col_20.500.14352_15

00925njm 22002777a 4500 dc Casamayor-Polo, Laura author Paz Artal, Estela Natividad author Allende Martínez, Luis Miguel author 2020-12-23 Apoptosis plays an important role in controlling the adaptive immune response and general homeostasis of the immune cells, and impaired apoptosis in the immune system results in autoimmunity and immune dysregulation. In the last 25 years, inherited human diseases of the Fas-FasL pathway have been recognized. Autoimmune lymphoproliferative syndrome (ALPS) is an inborn error of immunity, characterized clinically by nonmalignant and noninfectious lymphoproliferation, autoimmunity, and increased risk of lymphoma due to a defect in lymphocyte apoptosis. The laboratory hallmarks of ALPS are an elevated percentage of T-cell receptor αβ double negative T cells (DNTs), elevated levels of vitamin B12, soluble FasL, IL-10, IL-18 and IgG, and defective in vitro Fas-mediated apoptosis. In order of frequency, the genetic defects associated with ALPS are germinal and somatic ALPS-FAS, ALPS-FASLG, ALPS-CASP10, ALPS-FADD, and ALPS-CASP8. Partial disease penetrance and severity suggest the combination of germline and somatic FAS mutations as well as other risk factor genes. In this report, we summarize human defects of apoptosis leading to ALPS and defects that are known as ALPS-like syndromes that can be clinically similar to, but are genetically distinct from, ALPS. An efficient genetic and immunological diagnostic approach to patients suspected of having ALPS or ALPS-like syndromes is essential because this enables the establishment of specific therapeutic strategies for improving the prognosis and quality of life of patients. 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 Jun;58(4):253-274. doi: 10.1080/10408363.2020.1855623. Epub 2020 Dec 23. PMID: 33356695. 1040-8363 1549-781X 10.1080/10408363.2020.1855623 https://hdl.handle.net/20.500.14352/114215 https://doi.org/10.1136/bjophthalmol-2011-300218 Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS)