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

Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. Iran J Allergy Asthma Immunol. 2020 Jun 23;19(3):313-317 Authors: Sharafian S, Tavakol M, Gharagozlou M, Parvaneh N 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. PMID: 32615666 [PubMed - in process]
Source: Iranian Journal of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: Iran J Allergy Asthma Immunol Source Type: research