TY - JOUR A2 - Bozzola, Elena AU - Gavrilova, Tatyana PY - 2019 DA - 2019/12/28 TI - Primary Immunodeficiency with Severe Multi-Organ Immune Dysregulation SP - 8746249 VL - 2019 AB - 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. SN - 2090-6609 UR - https://doi.org/10.1155/2019/8746249 DO - 10.1155/2019/8746249 JF - Case Reports in Immunology PB - Hindawi KW - ER -