Imbalance in T-Helper 17 Cells and Targeted Therapy in an Infant with SAM-like Syndrome.
Angela Hernández-Martín, Rebeca Kennedy-Batalla, Elvira Cañedo, Esther Bernaldo-de-Quirós, Begoña Carazo-Gallego, Angel Vera, Antonio Torrelo, Lucero Noguera-Morel, Rogelio González-Sarmiento, Marieke Bolling, Marta Martínez-Bonet, Marjorie Pion, Rafael Correa-Rocha. N Engl J Med 2019 Nov 28;381(22):2176-2178. DOI: 10.1056/NEJMc1908531 The SAM syndrome, which is characterized by severe dermatitis, multiple allergies, and metabolic wasting (Online Mendelian Inheritance in Man number, 615508), is a congenital skin disease caused by mutations in the genes encoding either desmoglein-1 (DSG1) or desmoplakin (DSP). These mutations result in reduced epidermal integrity, which may be lethal in children because of recurrent sepsis and extreme undernourishment. The immunopathogenic mechanisms remain uncertain, and no treatments have been available. A 9-month-old girl was referred to our practice… Leer más »Imbalance in T-Helper 17 Cells and Targeted Therapy in an Infant with SAM-like Syndrome.