Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation.

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Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation.

Case Reports Immunol. 2019;2019:8746249

Authors: Gavrilova T

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.

PMID: 31956453 [PubMed]