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 -