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Article

Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.

The Journal of allergy and clinical immunology - 1 Nov 2023

Wolf Christine, Fischer Hannah, Kühl Jörn-Sven, Koss Sarah, Jamra Rami Abou, Starke Sven, Schultz Jurek, Ehl Stephan, Neumann Katrin, Schuetz Catharina, Huber Robert, Hornung Veit, Lee-Kirsch Min Ae

Abstract excerpt

BACKGROUND: Genetic defects in components of inflammasomes can cause autoinflammation. Biallelic loss-of-function mutations in dipeptidyl peptidase 9 (DPP9), a negative regulator of the NLRP1 and CARD8 inflammasomes, have recently been shown to cause an inborn error of immunity characterized by pancytopenia, skin manifestations, and increased susceptibility to infections. OBJECTIVE: We sought to study the...

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Identifiers

PMID: 37544411
DOI: 10.1016/j.jaci.2023.07.013
PMCID: PMC7615848

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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