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Article

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

Journal of clinical immunology - 1 Apr 2013

Bégin Philippe, Patey Natalie, Mueller Pascal, Rasquin Andrée, Sirard Alain, Klein Christoph, Haddad Elie, Drouin Éric, Le Deist Françoise

Abstract excerpt

PURPOSE: G6PC3 deficiency presents as a complex and heterogeneous syndrome that classically associates severe congenital neutropenia with cardiac and urogenital developmental defects. Here we investigate the findings of T cell lymphopenia and inflammatory bowel disease in a child with G6PC3 deficiency due to compound heterozygous mutations in intron 3 (c.IVS3-1 G>A) and exon 6 (c.G778G/C; p.Gly260/Arg). METHODS:...

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Identifiers

PMID: 23180359
DOI: 10.1007/s10875-012-9833-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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