Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome

Sharafian, S and Tavakol, M and Gharagozlou, M and Parvaneh, N (2020) Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. Iranian Journal of Allergy, Asthma and Immunology, 19 (3). pp. 313-317. ISSN 17351502

[img]
Preview
Text
2244-Layout version-16779-5-10-20200701.pdf

Download (205kB) | Preview
Official URL: https://ijaai.tums.ac.ir/index.php/ijaai/article/v...

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.

Item Type: Article
Uncontrolled Keywords: Autoimmune polyglandular syndrome Keratitis Photophobia Vision disorders
Subjects: QW Microbiology and Immunology
Divisions: Faculty of Medicin > Department of Immunology and Allergy
Depositing User: خدیجه شبانکاره
Date Deposited: 22 Dec 2020 10:22
Last Modified: 22 Dec 2020 10:22
URI: http://eprints.bpums.ac.ir/id/eprint/9052

Actions (login required)

View Item View Item