Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency
✍ Scribed by Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V. Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M. Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 219 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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✦ Synopsis
Abstract
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 of a 7‐year‐old Italian boy suffering from MSMD associated with a complex phenotype, including neonatal hyperglycemia, neuromuscular disease, and dysmorphic features. The child also developed necrotizing pneumonia caused by Rhodococcus equi. The child is homozygous for a nonsense mutation in exon 3 of IFNGR1 as a result of paternal uniparental disomy (UPD) of the entire chromosome 6. This is the first reported case of uniparental disomy resulting in a complex phenotype including MSMD. © 2010 Wiley‐Liss, Inc.