The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers.

Abstract

Autoimmune polyendocrine syndrome type 1 (APS1) is characterized by multiorgan autoimmunity. We aim at characterizing a multi-center Brazilian cohort of APS1 patients by clinical evaluation, searching mutation in the AIRE gene, measuring serum autoantibodies, and investigating correlations between findings. We recruited patients based on the clinical criteria and tested them for AIRE mutations, antibodies against interferon type I and interleukins 17A, 17F and 22. We identified 12 unrelated families (13 patients) with typical signs of APS1 in the proband, and the screening of relatives recognized an asymptomatic child. Candidiasis was present in all cases, and 19 other manifestations were observed. All patients carried one of 10 different mutations in AIRE, being 3 new ones, and were positive for anti-interferon type I serum antibody. Anti-interleukin-17A levels inversely correlated with the number of manifestations in each patient. This negative correlation may suggest a protective effect of anti-interleukin-17A with a potential therapeutic application.

• Authors: Fernanda Guimarães Weiler, Pärt Peterson, Beatriz Tavares Costa-Carvalho, Mayra de Barros Dorna, Joya Emilie Correia-Deur, Soraya Lopes Sader, Daniela Espíndola-Antunes, Gil Guerra-Junior, Magnus Régios Dias-da-Silva, Marise Lazaretti-Castro
• Journal: Clinical immunology (Orlando, Fla.) (Clin Immunol) Vol. 197 Pg. 231-238 (12 2018) ISSN: 1521-7035 [Electronic] United States
• PMID: 30287219 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2018. Published by Elsevier Inc.

Chemical References

• APECED protein
• Autoantibodies
• Cytokines
• IL17A protein, human
• IL17F protein, human
• Interferon Type I
• Interferon alpha-2
• Interleukin-17
• Interleukins
• Transcription Factors
• interferon omega 1
• interleukin-22

Topics

• Addison Disease (etiology)
• Adolescent
• Adult
• Autoantibodies (immunology)
• Brazil
• Candidiasis, Chronic Mucocutaneous (etiology)
• Child
• Cohort Studies
• Consanguinity
• Cytokines (immunology)
• DNA Mutational Analysis
• Female
• Humans
• Hypoparathyroidism (etiology)
• Interferon Type I (immunology)
• Interferon alpha-2 (immunology)
• Interleukin-17 (immunology)
• Interleukins (immunology)
• Male
• Mutation
• Pedigree
• Polyendocrinopathies, Autoimmune (complications, genetics, immunology, physiopathology)
• Tertiary Care Centers
• Transcription Factors (genetics)
• Young Adult