Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin‐Associated Periodic Syndrome

Kato, K; Honda, Y; Kamatani, T; Murakami, K; Shimizu, M; Komai, T; Kanda, H; Yasumura, J; Ando, T; Yamasaki, Y; Takei, S; Ohnishi, H; Matsubara, T; Takizawa, T; Kawai, T; Umebayashi, H; Nishimata, S; Kawashima, H; Tamura, N; Hosokawa, J; Kambe, N; Kitamoto, H; Okabe, M; Yamamoto, S; Kurosawa, Y; Kaneko, U; Nakamura, Y; Miyamoto, T; Nihira, H; Shibata, H; Tanaka, T; Hiejima, E; Fujio, K; Nakajima, A; Yamagishi, M; Shirasaki, Y; Saito, MK; Okada, S; Ogawa, S; Takita, J; Ohara, O; Nishikomori, R; Yasumi, T; Izawa, K

doi:10.1002/art.43329

Autoinflammatory & rare systemic diseases

Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin‐Associated Periodic Syndrome

Arthritis RheumatolPublished 21 Nov 2025Mechanistic study

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Authors' conclusion

In early-onset cases, the VAFs were comparable across various tissues and did not increase over time. Mutations in late-onset cases were enriched in myeloid cells, and VAFs were increased, suggesting a link to CH.

Study context

Population: Patients with cryopyrin-associated periodic syndrome (CAPS) somatic NLRP3 mosaicism (variant allele frequency (VAFs) of 4.3% to 34.9%)
Participants: 15 patients

Comparison: Early-onset vs late-onset CAPS with somatic NLRP3 mosaicism
Early-onsetn = 12
Late-onsetn = 3
Outcome: Longitudinal NLRP3 VAF trends and their correlation with clonal hematopoiesis

Methodological detailslongitudinal

Longitudinal

Main finding

As reported in the abstract

NLRP3 VAF across tissues and over time

After onset, VAF increase in whole blood over 6.4 years

2.9% to 10.6%

After onset, VAF increase in neutrophils over 4.4 years

6.2% to 16.4%

Reference

Authors: Kato K, Honda Y, Kamatani T, Murakami K, Shimizu M, Komai T, et al.
All 44 authors
Kato K, Honda Y, Kamatani T, Murakami K, Shimizu M, Komai T, Kanda H, Yasumura J, Ando T, Yamasaki Y, Takei S, Ohnishi H, Matsubara T, Takizawa T, Kawai T, Umebayashi H, Nishimata S, Kawashima H, Tamura N, Hosokawa J, Kambe N, Kitamoto H, Okabe M, Yamamoto S, Kurosawa Y, Kaneko U, Nakamura Y, Miyamoto T, Nihira H, Shibata H, Tanaka T, Hiejima E, Fujio K, Nakajima A, Yamagishi M, Shirasaki Y, Saito MK, Okada S, Ogawa S, Takita J, Ohara O, Nishikomori R, Yasumi T, Izawa K
Journal: Arthritis & Rheumatology
Published: 21 Nov 2025
DOI: 10.1002/art.43329
PubMed: 40693403

Topic: Autoinflammatory & rare systemic diseases

Key notes

Early-onset: VAFs generally consistent across tissues, incl. Dried umbilical cord (DUC), and did not increase over time
Late-onset: VAFs particularly high in myeloid cells

More notes

One late-onset case: no mutations detected in DUC
Single-cell: frequent co-occurrence of NLRP3 and TET2 mutations in same cells, both VAFs gradually increasing over three years in one late-onset case

Original publication

Longitudinal Analysis of Somatic Mosaicism and Clonal Hematopoiesis in Cryopyrin‐Associated Periodic Syndrome. Arthritis Rheumatol. Published 21 November 2025. doi:10.1002/art.43329

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