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Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.

Nature immunology - 1 Aug 2026

Swaminathan Barathram, Gil Hwi M, Bhattad Sagar, Janardhanan Jyothi, Mejía Baltodano Gerardo, Mariskanish Christine, Basaria Shamel, Choi Joseph M, Liu Qi, Scheepmaker Lisette M, Mohamed Mohamud, Boisson Bertrand, Casanova Jean-Laurent, Aksentijevich Ivona, Spaan András N, Markle Janet G

Abstract excerpt

The pathogenic mechanisms underlying pyoderma gangrenosum (PG) remain unclear. Here we report three patients with PG from two unrelated kindreds with homozygous R57C mutation of the linear deubiquitinase OTULIN. The patients have isolated, pediatric-onset, OTULIN-related PG (ORP). In contrast to OTULIN-related autoinflammatory syndrome (ORAS), caused by mutations affecting the catalytic domain, R57C affects the...

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Endopeptidases
Inflammasomes
Interleukin-1beta
Monocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tumor Necrosis Factor-alpha

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Identifiers

PMID: 42297973
DOI: 10.1038/s41590-026-02568-6
PMCID: PMC13414579

Genes

OTULIN
TNF
IL1B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.PMID 42297973Read ↗

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