Litcius/Paper detail

Pathogenic variants in the NLRP3 LRR domain at position 861 are responsible for a boost-dependent atypical CAPS phenotype

Antoine Fayand, Margaux Cescato, Laurent Le Corre, Alexandre Terré, Margaux Wacheux, Yixiang Y.J. Zhu, Armelle Melet, T. Moreau, Bahram Bodaghi, Fabrice Bonnet, Didier Brönnimann, Laurence Cuisset, Raquel Faria, Gilles Grateau, Pascal Pillet, Catharina M. Mulders‐Manders, Bénédicte Neven, Pierre Quartier, Olivier Richer, Léa Savey, Marie‐Elise Truchetet, Bénédicte F. Py, Guilaine Boursier, Jean‐Philippe Herbeuval, Sophie Georgin‐Lavialle, Mathieu P. Rodero

2023Journal of Allergy and Clinical Immunology14 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypePyrin domainImmunologyNALP3MedicineBiologyInflammasomeGeneticsGeneInflammationInflammasome and immune disordersIon Channels and ReceptorsGenetic Neurodegenerative Diseases