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Article

FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome.

Journal of clinical immunology - 1 Nov 2015

de Bielke María Gabriela Simesen, Perez Laura, Yancoski Judith, Oliveira João Bosco, Danielian Silvia

Abstract excerpt

Mutations in the FAS gene are the most common cause of Autoimmune Lymphoproliferative Syndrome (ALPS), and the majority of them affect the intracellular domain of FAS protein, particularly the region termed death domain. However, approximately one third of these mutations affect the extracellular region of FAS and most are stop codons, with very few missense changes having been described to date. We previously...

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Identifiers

PMID: 26563159
DOI: 10.1007/s10875-015-0210-0

Genes

FAS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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