Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation. (28th December 2019)

• Record Type: Journal Article
• Authors: Gavrilova, Tatyana
• Other Names: Bozzola Elena Academic Editor.
• Is Part Of: Case reports in immunology. Volume 2019(2019)
• Publication Date: 2019-12-28
• Subjects: Immunology -- Periodicals; Immunology -- Case studies -- Periodicals; Immune System Phenomena; Immunology; Immunology; Case studies; Periodicals; 571.96
• DOI: 10.1155/2019/8746249
• Languages: English
• ISSNs: 2090-6609

Abstract

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.