Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation

Author:

Gavrilova Tatyana1ORCID

Affiliation:

1. Assistant Professor, Albert Einstein College of Medicine, Attending in Medicine and Pediatrics, Division of Allergy and Immunology, Montefiore Medical Center, Bronx, NY, USA

Abstract

Polyglandular autoimmune syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare primary immunodeficiency disorder with multi-organ involvement. Besides for being predisposed to severe life-threatening infections, patients with APECED are also prone to organ impairment secondary to severe autoimmunity. As this is an autosomal recessive disorder, a biallelic mutation in the AIRE gene is responsible for APECED. The author presents a case of APECED with a single AIRE mutation. Whole exome sequencing identified a mutation in the BTNL2 gene that the author suggests may have contributed to the patient’s presentation.

Funder

Jeffrey Modell Foundation

Publisher

Hindawi Limited

Subject

Immunology,Immunology and Allergy

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