Article
Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Feb 2024
Liquidano-Perez Eduardo, Maza-Ramos Gibert, Perez Arias Bethy Alexandra, Lugo Reyes Saul Oswaldo, Barragan Arevalo Tania, Solorzano-Morales Sara Alejandra, Venegas Montoya Edna, Staines-Boone Aidé Tamara, Guzmán Cotaya Rogelio, Okada Satoshi, Picard Capucine, Patin Etienne, Ramirez-Uribe Nideshda, Bustamante-Ogando Juan Carlos, Scheffler-Mendoza Selma Cecilia, Yamazaki-Nakashimada Marco Antonio, Saez-de-Ocariz Marimar, Espinosa Padilla Sara Elva, Gonzalez-Serrano Maria Edith
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
