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Anne-Laure Rougemont, Jean-Christophe Fournet, Steven R Martin, Geneviève de Saint-Basile, Sylvain Latour, Marie-Noël Primeau, Laura Rubbia-Brandt, Elie Haddad, Françoise Le Deist
Gastric lesions in primary constitutive immune deficiencies include multifocal atrophic gastritis, erosive pangastritis, and a pattern of gastric lesions reminiscent of graft-versus-host disease. We describe the genetic anomalies in 2 monozygotic twins with an X-linked lymphoproliferative disease (XLP; MIM 308240), a rare familial setting of high susceptibility to Epstein-Barr virus (EBV). Since early childhood, both twin brothers exhibited a severe chronic active atrophic pangastritis. A germline screening of the SH2D1A (MIM 300490) and BIRC4 (MIM 300079) genes was performed, and also a high-resolution whole-genome SNP profiling (Infinium Sentrix Human-1 Genotyping BeadChip, Illumina)...
February 2008: American Journal of Surgical Pathology
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