Autoinflammatory disease and severe neutropenia due to <i>de novo</i> variant of PSTPIP1 with increased binding to pyrin
Cook et al. report a novel de novo heterozygous N236K mutation in PSTPIP1, identified in a patient with neonatal-onset PAMI that was ultimately fatal. The N236K mutation showed increased binding to pyrin and enhanced inflammasome formation. The authors also identify blood transcriptome changes in PAMI patients with both N236K and the more common E250K mutation.
Authors
- Hwi Min Gil (ORCID: https://orcid.org/0000-0002-3722-4302)
- James A. Connelly (ORCID: https://orcid.org/0000-0001-7223-375X)
- Janet Markle.
- Saara Kaviany (ORCID: https://orcid.org/0000-0003-2838-8214)
- Claire E. Cross (ORCID: https://orcid.org/0000-0002-5534-9491)
- Kranthi Nomula
- Sarah A. Cook (ORCID: https://orcid.org/0000-0002-2923-4009)
- Christopher C. Chang
- Joseph M. Choi
Institutions
- Vanderbilt University (US)
- Joe DiMaggio Children's Hospital (US)
- Vanderbilt Health (US)
- Vanderbilt University Medical Center (US)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-01-08
- DOI
- https://doi.org/10.70962/jhi.20250201
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00