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IL-2Rγ Gene Microdeletion Demonstrates That Canine X-Linked Severe Combined Immunodeficiency Is a Homologue of the Human Disease

1994; Elsevier BV; Volume: 23; Issue: 1 Linguagem: Inglês

10.1006/geno.1994.1460

1089-8646

Paula S. Henthorn, Richard L. Somberg, Victoria M. Fimiani, Jennifer M. Puck, Donald F. Patterson, Peter J. Felsburg,

Antimicrobial Peptides and Activities

X-linked severe combined immunodeficiency (SCID) is characterized by profound defects in cellular and humoral immunity and, in humans, is associated with mutations in the gene for the γ chain of the IL-2 receptor (IL-2Rγ). We have examined this gene in a colony of dogs established from a single X-linked SCID carrier female. Affected dogs have a 4-bp deletion in the first exon of the IL-2Rγ gene, which precludes the production of a functional protein, demonstrating that the canine disease is a true homologue of human X-linked SCID.