Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 Deficiency

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency associated with clinical disease caused by weakly virulent mycobacterial species. Interferon gamma receptor 1 (IFN-γR1) deficiency is a genetic etiology of MSMD. We describe the clinical and genetic features...

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Main Authors: Prando, Carolina, Boisson-Dupuis, Stéphanie, Grant, Audrey, Kong, Xiao-Fei, Bustamante, Jacinta, Feinberg, Jacqueline, Chapgier, Ariane, Rose, Yoann, Jannière, Lucile, Rizzardi, Elena, Zhang, Qiuping, Shanahan, Catherine M, Viollet, Louis, Lyonnet, Stanislas, Abel, Laurent, Ruga, Ezia Maria, Casanova, Jean-Laurent
Format: Artigo
Language:Inglês
Published: 2010
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946788/
https://ncbi.nlm.nih.gov/pubmed/20186794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33291
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