Journal of the Endocrine Society Journal Article

New Mutations in APS

August 02, 2021
 

Marina Yukina, Taisia Erofeeva, Nurana Nuralieva, Tatiana Andreeva, Elena Savvateeva, Natalia Dudko, Ekaterina Troshina, Evgeny Rogaev, Galina Melnichenko
Journal of the Endocrine Society, Volume 5, Issue 8, August 2021, bvab077
https://doi.org/10.1210/jendso/bvab077

Abstract

Context

Autoimmune polyglandular syndrome (APS) is a cluster of endocrine disorders arising from immune dysregulation, often combined with damage to nonendocrine organs. There are 2 types of APS: type 1 and type 2 (APS-1 and APS-2, respectively). In clinical practice, an atypical course of APS is often observed.

Objective

This work aims to find a novel genetic predictor of APS.

Methods

We performed exome sequencing in 2 patients with an atypical clinical APS picture and members of their families. Patient A presented with a manifestation of APS-2 in early childhood and patient B with a late manifestation of the main components of APS-1.

Results

In patient B, we identified inherited compound mutations as a novel combination of the c.769C > T and c.821delG alleles of AIRE and genetic variation in the CIITA gene. No homozygous or compound mutations in AIRE were found in patient A, but we did reveal mutations in genes encoding regulatory proteins of innate and acquired immunity in this patient.

Conclusion

Our data revealed novel combination of mutations in the AIRE gene in atypical APS and imply that mutations in immune-related genes may modify the clinical manifestation of APS in AIRE-mutation carriers and contribute to the development of autoimmune pathology in non-AIRE carriers with atypical APS.

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immuno-endocrinology
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