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1995-2025: A long journey in the ALPS
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DOI：10.1016/j.imlet.2026.107178.png)
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Abstract
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• Thirty years ago, the description of heterozygous mutations in the FAS gene in patients with autoimmune lymphoproliferative syndrome (ALPS) constituted the first steps toward identifying monogenic causes of primary immune deficiency and dysregulation (PIDD). The discovery of somatic mutations in this gene 10 years later was the first example of somatic mutations not associated with hematological malignancy but with an autoimmune disease. The demonstration of hyperactivation of the MTOR pathway in ALPS patients led to the development of an effective treatment specifically targeting this pathway. The advent of next-generation sequencing (NGS) in the 2010s led to the identification of mutations in numerous genes (e.g., CTLA4, STAT3) in patients who, in addition to lymphoproliferation, present with severe infections. Given the specific targeting of each pathology, it is necessary to discriminate ALPS bona fide from these autoimmune lymphoproliferations with primary immunodeficiency (ALPID).
Keywords:
FAS gene
autoimmune lymphoproliferative syndrome
somatic mutations
mTOR pathway
primary immune deficiency
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