SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases.
Bronnec P, Dalmon S, Briand C, Allatif O, Broly M, Marcotte M, Lombardi G, Barthes K, Martel N, Hughes S, Gillet B, Milhavet F, Atilgan A, Bachelez H, Palmeri S, Prigione I, Madrange M, Savey L, Moutschen M, Jeru I, El Moussaoui M, Belot A, Sbidian E, Carbone A, Jamilloux Y, Gattorno M, Smahi A, Georgin-Lavialle S, Boursier G, Magnotti F, Henry T.
Bronnec P, et al.
J Exp Med. 2026 Feb 2;223(2):e20251065. doi: 10.1084/jem.20251065. Epub 2025 Dec 3.
J Exp Med. 2026.
PMID: 41335224
MEFV, which encodes the inflammasome sensor pyrin, is mutated in two autoinflammatory diseases, familial Mediterranean fever (FMF) and pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). ...
MEFV, which encodes the inflammasome sensor pyrin, is mutated in two autoinflammatory diseases, familial Mediterranean fever ( …