Article
Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
The Journal of allergy and clinical immunology - 1 Nov 2023
Fayand Antoine, Cescato Margaux, Le Corre Laurent, Terré Alexandre, Wacheux Margaux, Zhu Yixiang Y J, Melet Armelle, Moreau Thomas R J, Bodaghi Bahram, Bonnet Fabrice, Bronnimann Didier, Cuisset Laurence, Faria Raquel, Grateau Gilles, Pillet Pascal, Mulders-Manders Catharina M, Neven Benedicte, Quartier Pierre, Richer Olivier, Savey Léa, Truchetet Marie-Elise, Py Bénédicte F, Boursier Guilaine, Herbeuval Jean-Philippe, Georgin-Lavialle Sophie, Rodero Mathieu P
Abstract excerpt
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is associated with NLRP3 pathogenic variants, mostly located in the NACHT (neuronal apoptosis inhibitor protein, MHC class 2 transcription activator, incompatibility locus protein from Podospora anserina, telomerase-associated protein) domain. Cold-induced urticarial rash is among the main clinical features. However, this study identified a series of 14...
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