Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype.
Fayand A, Cescato M, Le Corre L, Terré A, Wacheux M, Zhu YYJ, Melet A, Moreau TRJ, Bodaghi B, Bonnet F, Bronnimann D, Cuisset L, Faria R, Grateau G, Pillet P, Mulders-Manders CM, Neven B, Quartier P, Richer O, Savey L, Truchetet ME, Py BF, Boursier G, Herbeuval JP, Georgin-Lavialle S, Rodero MP.
Fayand A, et al.
J Allergy Clin Immunol. 2023 Nov;152(5):1303-1311.e1. doi: 10.1016/j.jaci.2023.07.006. Epub 2023 Jul 26.
J Allergy Clin Immunol. 2023.
PMID: 37506976
IL-1beta secretion by PBMCs and purified monocytes from patients and healthy donors was evaluated following LPS and monosodium urate crystal stimulation. RESULTS: Patients with substitution at position 861 of NLRP3 demonstrated a higher prevalence of sensorineural hearing …
IL-1beta secretion by PBMCs and purified monocytes from patients and healthy donors was evaluated following LPS and monosodium urate crys …