Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA.
Am J Med Genet A. 2010 Mar;152A(3):622-9. doi: 10.1002/ajmg.a.33291.
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-gammaR1) 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.
孟德尔易感性分枝杆菌病 (MSMD) 是一种罕见的原发性免疫缺陷病，与由弱毒分枝杆菌引起的临床疾病有关。γ干扰素受体 1 (IFN-gammaR1) 缺陷是 MSMD 的一种遗传病因。我们描述了一名 7 岁意大利男孩的临床和遗传特征，他患有 MSMD，伴有复杂的表型，包括新生儿高血糖、神经肌肉疾病和发育异常。该患儿还患有由马红球菌引起的坏死性肺炎。患儿因父亲整条 6 号染色体单亲二体性 (UPD) 而在 IFNGR1 外显子 3 中纯合出现无意义突变。这是首例报道的单亲二体性导致包括 MSMD 在内的复杂表型的病例。
