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Article

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS).

Journal of clinical immunology - 10 Oct 2024

Wu Qi, Sun Bijun, Hou Jia, Hui Xiaoying, Wang Chenghao, Wang Wenjie, Ying Wenjing, Liu Luyao, Zhu Li, Wang Ying, Li Qifan, Yu Meiping, Zhou Weitao, Chen Yao, Wu Bingbing, Sun Jinqiao, Zhou Qinhua, Qian Feng, Wang Xiaochuan

Abstract excerpt

OBJECTIVE: FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant and rarely in an autosomal recessive manner. We report a case of a newborn girl with novel compound heterozygous variants in FAS and reveal the underlying mechanism. METHODS: Whole-exome sequencing (WES) was used to identify pathogenic variants. Multiparametric flow cytometry...

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Apoptosis
Autoimmune Lymphoproliferative Syndrome
COVID-19
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

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PMID: 39384643
DOI: 10.1007/s10875-024-01812-8

Genes

FAS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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