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

  • Samin Sharafian Department of Allergy and Clinical Immunology, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
  • Marzieh Tavakol Non-Communicable Diseases Research Center, Karaj, Iran AND Department of Allergy and Clinical Immunology, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran
  • Mohammad Gharagozlou Department of Allergy and Clinical Immunology, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  • Nima Parvaneh Department of Allergy and Clinical Immunology, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran AND Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran
Keywords:
Autoimmune polyglandular syndrome, Photophobia, Keratitis, Vision disorders

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.

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Published
2020-06-23
How to Cite
1.
Sharafian S, Tavakol M, Gharagozlou M, Parvaneh N. Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome. Iran J Allergy Asthma Immunol. 19(3):313-317.
Section
Case Report(s)