4.7 Article

In Search for the Missing Link in APECED-like Conditions: Analysis of the AIRE Gene in a Series of 48 Patients

Journal

JOURNAL OF CLINICAL MEDICINE
Volume 11, Issue 11, Pages -

Publisher

MDPI
DOI: 10.3390/jcm11113242

Keywords

autoimmunity; immunodeficiency; APECED-like conditions; AIRE gene polymorphisms; autoantibodies; precision medicine; candidate gene approach; whole-exome sequencing; diagnostic workup; targeted therapies

Funding

  1. Italian Ministry of Health

Ask authors/readers for more resources

Autoimmune diseases are a diverse group of immune system disorders that can be associated with immunodeficiency. This study examined the presence of AIRE gene variations in patients with high polyautoimmunity complexity and found a significant association between the S278R polymorphism of the AIRE gene and APECED-like conditions. Additional genetic determinants need to be identified to improve diagnosis and targeted therapies for these patients.
Autoimmune diseases are a heterogeneous group of disorders of the immune system. They can cluster in the same individual, revealing various preferential associations for polyendocrine autoimmune syndromes. Clinical observation, together with advances in genetics and the understanding of pathophysiological processes, has further highlighted that autoimmunity can be associated with immunodeficiency; autoimmunity may even be the first primary immunodeficiency manifestation. Analysis of susceptibility genes for the development of these complex phenotypes is a fundamental issue. In this manuscript, we revised the clinical and immunologic features and the presence of AIRE gene variations in a cohort of 48 patients affected by high polyautoimmunity complexity, i.e., APECED-like conditions, also including patients affected by primary immunodeficiency. Our results evidenced a significant association of the S278R polymorphism of the AIRE gene with APECED-like conditions, including both patients affected by autoimmunity and immunodeficiency and patients with polyautoimmunity compared to healthy controls. A trend of association was also observed with the IVS9+6 G>A polymorphism. The results of this genetic analysis emphasize the need to look for additional genetic determinants playing in concert with AIRE polymorphisms. This will help to improve the diagnostic workup and ensure a precision medicine approach to targeted therapies in APECED-like patients.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available