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Article

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).

Pediatric rheumatology online journal - 20 Aug 2020

Mendonça Leonardo Oliveira, Grossi Alice, Caroli Francesco, de Oliveira Robson Aguiar, Kalil Jorge, Castro Fabio Fernandes Morato, Pontillo Alessandra, Ceccherini Isabella, Barros Myrthes Anna Maragna Toledo, Gattorno Marco

Abstract excerpt

BACKGROUND: Deficiency of the natural antagonist of interleukin-1 was first described in 2009 and so far 20 patients has been reported. In Brazil just two cases have been reported both carrying the same homozygous 15 bp deletion. Blocking interleukin-1 has changed rate survival for DIRA patients. The use of anakinra and rilonacept has been reported safe and efficient, whereas the selective blockade of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32819369
DOI: 10.1186/s12969-020-00454-5
PMCID: PMC7439677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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