Article
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Nov 2021
Blanco Lobo Pilar, Lei Wei-Te, Pelham Simon J, Guisado Hernández Paloma, Villaoslada Isabel, de Felipe Beatriz, Lucena José Manuel, Casanova Jean-Laurent, Olbrich Peter, Puel Anne, Neth Olaf
Abstract excerpt
BACKGROUND: Inherited chronic mucocutaneous candidiasis (CMC) is often caused by inborn errors of immunity, impairing the response to, or the production of IL-17A and IL-17F. About half of the cases carry STAT1 gain-of-function (GOF) mutations. Only few patients have been reported with mutations of TRAF3IP2, a gene encoding the adaptor ACT1 essential for IL-17 receptor(R) signaling. We investigated a 10-year-old...
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