Delay in Diagnosis of Two Siblings With Severe Ocular Problems and Autoimmune Polyglandular Syndrome Publisher Pubmed



Sharafian S¹ ; Tavakol M^{2, 3} ; Gharagozlou M⁴ ; Parvaneh N^{4, 5}
Source: Iranian Journal of Allergy# Asthma and Immunology Published:2020

Abstract

Autoimmune polyendocrine syndrome type 1 (APS1) is a scarce polyendocrinopathy with autosomal recessive inheritance results from defects in the human autoimmune regulatory (AIRE) gene. In addition to three major manifestations of APS1 including mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, ophthalmic problems such as keratoconjunctivitis, dry eye, iridocyclitis, and cataract can be seen in these patients. In this article, we introduced two siblings presented with nail dystrophia, severe photophobia, and keratitis since early childhood which genetic examination revealed single nucleotide T>C translocation in their 2nd exon and heterozygous deletion mutation in their 12th exon. © 2020 Tehran University of Medical Sciences. All rights reserved.