Eduardo Liquidano-Perez, Gibert Maza-Ramos, Bethy Alexandra Perez Arias, Saul Oswaldo Lugo Reyes, Tania Barragan Arevalo, Sara Alejandra Solorzano-Morales, Edna Venegas Montoya, Aidé Tamara Staines-Boone, Rogelio Guzmán Cotaya, Satoshi Okada, Capucine Picard, Etienne Patin, Nideshda Ramirez-Uribe, Juan Carlos Bustamante-Ogando, Selma Cecilia Scheffler-Mendoza, Marco Antonio Yamazaki-Nakashimada, Marimar Saez-de-Ocariz, Sara Elva Espinosa Padilla, Maria Edith Gonzalez-Serrano
PURPOSE: We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8-Def) in a tertiary care center for children. METHODS: Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8-Def. Genetic analysis was performed with targeted- or whole-exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan-Meier method...
February 2024: Pediatric Allergy and Immunology