Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

doi:10.1002/art.39770

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Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Dec 2016

Mensa-Vilaro Anna, Teresa Bosque María, Magri Giuliana, Honda Yoshitaka, Martínez-Banaclocha Helios, Casorran-Berges Marta, Sintes Jordi, González-Roca Eva, Ruiz-Ortiz Estibaliz, Heike Toshio, Martínez-Garcia Juan J, Baroja-Mazo Alberto, Cerutti Andrea, Nishikomori Ryuta, Yagüe Jordi, Pelegrín Pablo, Delgado-Beltran Concha, Aróstegui Juan I

Abstract excerpt

OBJECTIVE: Gain-of-function NLRP3 mutations cause cryopyrin-associated periodic syndrome (CAPS), with gene mosaicism playing a relevant role in the pathogenesis. This study was undertaken to characterize the genetic cause underlying late-onset but otherwise typical CAPS. METHODS: We studied a 64-year-old patient who presented with recurrent episodes of urticaria-like rash, fever, conjunctivitis, and...

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Identifiers

PMID: 27273849
DOI: 10.1002/art.39770

Genes

NLRP3
CAPS

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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