title: IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease.
abstract: 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 gamma chain of the IL-2 receptor (IL-2R gamma). 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-2R gamma gene, which precludes the production of a functional protein, demonstrating that the canine disease is a true homologue of human X-linked SCID.
authors: Sections of Medical Genetics, Department of Clinical Studies-Philadelphia, University of Pennsylvania School of Veterinary Medicine 19104.
authors: P S
authors: PS
authors: Henthorn
authors: R L
authors: RL
authors: Somberg
authors: V M
authors: VM
authors: Fimiani
authors: J M
authors: JM
authors: Puck
authors: D F
authors: DF
authors: Patterson
authors: P J
authors: PJ
authors: Felsburg
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004195:Disease Models, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D005091:Exons; D005260:Female; D005796:Genes; D006801:Humans; D008297:Male; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016415:Sequence Alignment; D017384:Sequence Deletion; D016511:Severe Combined Immunodeficiency / Q000235:genetics / Q000662:veterinary*; D013045:Species Specificity
chemical_list: D015375:Receptors, Interleukin-2