• A S Parentelli, C Picard, G Boursier, I Melki, A Belot, A Smahi, and S Georgin-Lavialle.
• Service des urgences pédiatriques, hôpital Robert-Debré, Assistance Publique des hôpitaux de Paris (AP-HP), 48, boulevard Sérurier, 75019 Paris, France; Institut Imagine, Inserm U1163, CNRS ERL 8254, université Paris Cité, Sorbonne Paris-Cité, Laboratoire d'excellence GR-Ex, Paris, France.
• Rev Med Interne. 2022 Sep 1; 43 (9): 552-558.

AbstractAutoinflammatory diseases related to RIPK1 mutations have been recently described. Two distinct clinical phenotypes have been reported and depend on the type and location of the mutation. When the mutation is recessive with loss of function, patients develop a combined phenotype of immune deficiency with recurrent bacterial and fungal infections and signs of early inflammatory bowel disease, non-erosive polyarthritis and growth retardation. On the other hand, when the mutation is dominant, gain of function, the manifestations are only auto-inflammatory with extensive lymphoproliferation, oral lesions such as aphthosis or ulcers, abdominal pain and hepatosplenomegaly. The mutations described for the dominant form affect only the cleavage site of caspase 8 and the clinical phenotype is called CRIA for Cleavage-Resistant RIPK1-Induced Autoinflammatory syndrome. The recessive form is severe and life-threatening requiring hematopoietic stem cell transplantation while the dominant form responds well to interleukin-6 receptor antagonists. Thus, RIPK1 mutations can induce various clinical manifestations with two distinct phenotypes. Although still rare, because of their recent description, these diseases can be suspected by an internist, in front of recurrent digestive features and will be increasingly diagnosed in the future through the integration of this gene in the diagnostic chips dedicated to autoinflammatory diseases and early inflammatory bowel diseases, using next generation sequencing.Copyright © 2022. Published by Elsevier Masson SAS.

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