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
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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 |
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