A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: Description of two unrelated cases from Brazil

2011115 citationsJournal Article

Authors

Adriana A. de Jesus · Universidade de São Paulo

Mazen Osman

Clóvis A. Silva · Universidade de São Paulo

Peter W. Kim · National Institute of Arthritis and Musculoskeletal and Skin Diseases

Tuyet-Hang Pham · National Institute of Arthritis and Musculoskeletal and Skin Diseases

Massimo Gadina · National Institute of Arthritis and Musculoskeletal and Skin Diseases

Barbara Yang ·

Abstract

The presence of the same homozygous novel mutation in IL1RN in 2 unrelated Brazilian patients suggests that this genetic variant may be a founder mutation that has been introduced in the Brazilian population.

Topics & Keywords

Inflammasome and immune disorders Immune Response and Inflammation Osteomyelitis and Bone Disorders Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Arthritis & Rheumatism

Volume 63, Issue 12, pp. 4007-4017

DOI: 10.1002/art.30588

Field-Weighted Citation Impact: 3.60