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Article

The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function.

Human immunology - 1 May 2012

Boggio Elena, Melensi Matteo, Bocca Sara, Chiocchetti Annalisa, Comi Cristoforo, Clemente Nausicaa, Orilieri Elisabetta, Soluri Maria Felicia, D'Alfonso Sandra, Mechelli Rosella, Gentile Giovanna, Poggi Alessandro, Salvetti Marco, Ramenghi Ugo, Dianzani Umberto

Abstract excerpt

Inherited defects decreasing function of the Fas death receptor cause autoimmune lymphoproliferative syndrome (ALPS) and its variant Dianzani autoimmune lymphoproliferative disease (DALD). Since a deleterious mutation of the SH2D1A gene protects MRLlpr/lpr mice from ALPS development, we investigated the role of SH2D1A, located in the X chromosome, in 51 patients with ALPS or DALD by mutational screening of coding...

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Share to Autoimmune Lymphoproliferative Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, X

Share to fas Receptor

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Identifiers

PMID: 22425739
DOI: 10.1016/j.humimm.2012.02.025

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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