Article
Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.
Journal of genetics - 1 Jan 2023
Castano-Jaramillo Lina M, Larrauri Francisco Rivas, Scheffler-Mendoza Selma C, Gutierrez-Hernandez Alonso, Ogando Juan Carlos Bustamante, Colin Paulina, Cisneros Margarita Ortega, Rajme-López Sandra, Medina-Torres Edgar Alejandro, Ruiz Laura Berron, Rodriguez-Lozano Ana Luisa, Padilla Sara Elva Espinosa, Yamazaki-Nakashimada Marco Antonio, Reyes Saul O Lugo
Abstract excerpt
Inborn errors of immunity may present with autoimmunity and autoinflammation as hallmark clinical manifestations. We aimed to identify the potential monogenic causes of autoimmune disorders in 26 patients from a pediatric reference hospital in Mexico through whole-exome sequencing. We specifically selected patients with a family history of autoimmune diseases, early-onset symptoms, and difficult-to-control...
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