RESUMO
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.
Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 6/genética , Infecções por Mycobacterium/genética , Receptores de Interferon/deficiência , Receptores de Interferon/genética , Dissomia Uniparental/genética , Infecções por Actinomycetales/genética , Criança , Códon sem Sentido , Análise Mutacional de DNA , Éxons , Pai , Feminino , Homozigoto , Humanos , Masculino , Linhagem , Fenótipo , Rhodococcus equi , Síndrome , Receptor de Interferon gamaRESUMO
An 8-year-old boy with recurrent acute bleeding of lymphangioma of the left orbit is described. D-dimer levels increased as the size of the mass became stable, showing the effect of fibrinolysis within the hemorrhagic mass after clotting. D-dimer levels confirmed the possible use of conservative management of this lymphangioma.