Clinical, immunological, and genetic description of a Mexican cohort of patients with DOCK8 deficiency.
Eduardo Liquidano-PerezGibert Maza-RamosBethy Alexandra Perez AriasSaul Oswaldo Lugo-ReyesTania Barragán-ArévaloSara Alejandra Solorzano-MoralesEdna Venegas MontoyaAidé Tamara Staines-BooneRogelio Guzmán CotayaSatoshi OkadaCapucine PicardEtienne PatinNideshda Ramirez-UribeJuan Carlos Bustamante-OgandoSelma Cecilia Scheffler-MendozaMarco Antonio Yamazaki-NakashimadaMaria Del Mar Saéz de OcarizSara Elva Espinosa-PadillaMaria Edith Gonzalez-SerranoPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2024)
DOCK8-Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI-associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8-Def. Therefore, an early diagnosis of DOCK8-Def is essential to facilitate an adequate treatment such as HSCT.