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Article

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.

Journal of clinical immunology - 1 Jul 2017

Mendonca Leonardo O, Malle Louise, Donovan Frank X, Chandrasekharappa Settara C, Montealegre Sanchez Gina A, Garg Megha, Tedgard Ulf, Castells Mariana, Saini Shiv S, Dutta Sourabh, Goldbach-Mansky Raphaela, Suri Deepti, Jesus Adriana A

Abstract excerpt

PURPOSE: Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The...

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Identifiers

PMID: 28503715
DOI: 10.1007/s10875-017-0399-1
PMCID: PMC8420971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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