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ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.
- Source :
-
Annals of hematology [Ann Hematol] 2022 Mar; Vol. 101 (3), pp. 469-484. Date of Electronic Publication: 2022 Jan 20. - Publication Year :
- 2022
-
Abstract
- Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder characterized by benign or malignant lymphoproliferation and autoimmunity. Classically, ALPS is due to mutations in FAS and other related genes; however, recent research revealed that other genes could be responsible for similar clinical features. Therefore, ALPS classification and diagnostic criteria have changed over time, and several ALPS-like disorders have been recently identified. Moreover, mutations in FAS often show an incomplete penetrance, and certain genotypes have been associated to a dominant or recessive inheritance pattern. FAS mutations may also be acquired or could become pathogenic when associated to variants in other genes, delineating a possible digenic type of inheritance. Intriguingly, variants in FAS and increased TCR αβ double-negative T cells (DNTs, a hallmark of ALPS) have been identified in multifactorial autoimmune diseases, while FAS itself could play a potential role in carcinogenesis. These findings suggest that alterations of FAS-mediated apoptosis could trespass the universe of inborn errors of immunity and that somatic mutations leading to ALPS could only be the tip of the iceberg of acquired immunodeficiencies.<br /> (© 2022. The Author(s).)
- Subjects :
- Animals
Autoimmune Lymphoproliferative Syndrome diagnosis
Autoimmune Lymphoproliferative Syndrome immunology
Autoimmunity
Humans
Neoplasms diagnosis
Neoplasms genetics
Neoplasms immunology
fas Receptor immunology
Autoimmune Lymphoproliferative Syndrome genetics
Mutation
fas Receptor genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1432-0584
- Volume :
- 101
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Annals of hematology
- Publication Type :
- Academic Journal
- Accession number :
- 35059842
- Full Text :
- https://doi.org/10.1007/s00277-022-04761-7