Article
An unusual case of RIPK1-related immunodeficiency: The importance of a timely diagnosis for a novel clinical and therapeutic pattern.
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Mar 2026
Parentelli Anne-Sophie, Lopes Anne-Aurélie, Bastard Paul, Bizien Lucy, Bondet Vincent, Duffy Darragh, Fernandes Alicia, Fabrega Sylvie, Dussiot Michael, Levy Yael, Smahi Asma, Jung Vincent, Guerrera Chiara, Sorin Boris, Stolzenberg Marie-Claude, Rieux-Laucat Frédéric, Bruneau Julie, Picard Capucine, Casanova Jean-Laurent, Georgin-Lavialle Sophie, Hermine Olivier
Abstract excerpt
INTRODUCTION: RIPK1-associated autoinflammatory diseases are monogenic autoinflammatory diseases with two distinct phenotypes: a severe immune deficiency form due to homozygous loss-of-function mutations, and a milder form, known as CRIA (Cleavage-Resistant RIPK1-Induced Autoinflammatory syndrome), due to heterozygous gain-of-function mutations within the caspase-8 cleavage site. Diagnosis can be challenging,...
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