Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency

C Prando, S Boisson‐Dupuis, AV Grant… - American Journal of …, 2010 - Wiley Online Library
C Prando, S Boisson‐Dupuis, AV Grant, XF Kong, J Bustamante, J Feinberg, A Chapgier…
American Journal of Medical Genetics Part A, 2010Wiley Online Library
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 …
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.
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