Answers are grounded in this paper and cite their sources.
Cook et al. report a mutation in PSTPIP1 associated with severe neutropenia in a patient, suggesting new insights into autoinflammatory diseases.
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.
No takes yet. Share an insight, caveat, or question.
Cook et al. (2026) studied this question.
Synapse has enriched 8 closely related papers on similar clinical questions. Consider them for comparative context: