MON-364 Autoimmune Polyendocrinopathy Syndrome Type I Presented with Adrenal Insuffiency and Nail Fungal Infection Confirmed by Homozygous Pathogenic Variant in the AIRE Gene

Abstract

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare and complex recessively inherited disorder. APS-1 diagnosed when patient have at least two of the three major conditions that result from this syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenocortical insufficiency. APS-1 is caused by changes (mutations) in the autoimmune regulator (AIRE) gene. Chronic mucocutaneous candidiasis (CMC), a condition of recurrent candidiasis infections that may involve the skin, nails, oral, anal and genital mucosa, is a hallmark of APS-1. We report a7 years old boy with history of fungal infections since early childhood affecting nails and skin. Also he has alopecia . recurrent abdominal pain,lethargy and vomiting. At diagnosis his skin was hyper pigmented at gums and palms and nail dystrophy. His laboratory shows high ACTH 1251 pmol/l and low aldosterone 57 pg/ml. he has positive candida culture in the nail. We send genetic study Whole Exome Sequencing and came to be positive for A homozygous pathogenic variant in the AIRE gene. c.205_208dup p.(Asp70Alafs*148). The child was treated with hydrocortisone and fludrocortisone. We report a rare case of a homozygous pathogenic variant in the AIRE gene that illustrate the typical presentation of APS type 1