Escola Paulista de Medicina
Postgraduate in Clinical Endocrinology

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

Clinical ImmunologyClin Immunol. 2018 Oct 1. pii: S1521-6616(18)30189-X. doi: 10.1016/j.clim.2018.09.012. [Epub ahead of print]
The heterogeneity of autoimmune polyendocrine syndrome type 1: Clinical features, new mutations and cytokine autoantibodies in a Brazilian cohort from tertiary care centers
Weiler FG1, Peterson P2, Costa-Carvalho BT3, de Barros Dorna M4, de Menezes Correia-Deur JE5, Sader SL6, Espíndola-Antunes D7, Guerra-Junior G8, Dias-da-Silva MR9, Lazaretti-Castro M1.

Author information:
1. Division of Endocrinology, Department of Medicine, Universidade Federal de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
2. Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
3. Allergy and immunology unit, Department of Pediatrics, Universidade Federal de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
4. Allergy and immunology unit, Department of Pediatrics, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
5. Department of Genetic Endocrinology, Universidade de Sao Paulo, Sao Paulo, Sao Paulo, Brazil.
6. Department of Pediatrics, Ribeirao Preto Medical School, Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil.
7. Division of Endocrinology and Metabolism, Universidade Federal de Goias, Goiania, Goias, Brazil.
8. Department of Pediatrics, Universidade Estadual de Campinas, Campinas, Sao Paulo, Brazil.
9. Division of Endocrinology, Department of Medicine, Universidade Federal de Sao Paulo, Sao Paulo, Sao Paulo, Brazil. Electronic address: mrdsilva@unifesp.br.

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.

https://www.sciencedirect.com/journal/clinical-immunology

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