Delay in Diagnosis of Two Siblings with Severe Ocular Problems and Autoimmune Polyglandular Syndrome
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.
1. Kahaly GJ. Polyglandular autoimmune syndromes. Eur J Endocrinol. 2009;161(1):11-20.
2. Guo CJ, Leung PSC, Zhang W, Ma X, Gershwin ME. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1). Autoimmun Rev. 2018;17(1):78-85.
3. Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J Am Acad Dermatol. 2015;73(3):367-82.
4. Pellerin L, Jenks JA, Bégin P, Bacchetta R, Nadeau KC. Regulatory T cells and their roles in immune dysregulation and allergy. Immunol Res. 2014;58(2-3):358-68.
5. Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med. 2009;265(5):514-29.
6. Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M. Autoimmune polyendocrine syndrome type 1: case report and review of literature. Arq Bras Endocrinol Metabol. 2012;56(1):54-66.
7. Akil H, Bulus AD, Andiran N, Veber PS, Keskin S. A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect. J Clin OphthalmolRes. 2016;4(1):37.
8. Shoughy SS, Tabbara KF. Topical tacrolimus solution in autoimmune polyglandular syndrome-1-associated keratitis. Br J Ophthalmol. 2017;101(9):1230-3.
9. Merenmies L, Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand. 2000;78(5):532-5.
10. Yeh S, de Paiva CS, Hwang CS, Trinca K, Lingappan A, Rafati JK, et al. Spontaneous T cell mediated keratoconjunctivitis in Aire-deficient mice. Br J Ophthalmol. 2009;93(9):1260-4.
2. Guo CJ, Leung PSC, Zhang W, Ma X, Gershwin ME. The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1). Autoimmun Rev. 2018;17(1):78-85.
3. Pichard DC, Freeman AF, Cowen EW. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J Am Acad Dermatol. 2015;73(3):367-82.
4. Pellerin L, Jenks JA, Bégin P, Bacchetta R, Nadeau KC. Regulatory T cells and their roles in immune dysregulation and allergy. Immunol Res. 2014;58(2-3):358-68.
5. Husebye ES, Perheentupa J, Rautemaa R, Kampe O. Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I. J Intern Med. 2009;265(5):514-29.
6. Weiler FG, Dias-da-Silva MR, Lazaretti-Castro M. Autoimmune polyendocrine syndrome type 1: case report and review of literature. Arq Bras Endocrinol Metabol. 2012;56(1):54-66.
7. Akil H, Bulus AD, Andiran N, Veber PS, Keskin S. A case of autoimmune polyendocrine syndrome type 1 with ocular findings and unique AIRE gene defect. J Clin OphthalmolRes. 2016;4(1):37.
8. Shoughy SS, Tabbara KF. Topical tacrolimus solution in autoimmune polyglandular syndrome-1-associated keratitis. Br J Ophthalmol. 2017;101(9):1230-3.
9. Merenmies L, Tarkkanen A. Chronic bilateral keratitis in autoimmune polyendocrinopathy-candidiadis-ectodermal dystrophy (APECED). A long-term follow-up and visual prognosis. Acta Ophthalmol Scand. 2000;78(5):532-5.
10. Yeh S, de Paiva CS, Hwang CS, Trinca K, Lingappan A, Rafati JK, et al. Spontaneous T cell mediated keratoconjunctivitis in Aire-deficient mice. Br J Ophthalmol. 2009;93(9):1260-4.
| Files | ||
| Issue | Vol 19, No 3 (2020) | |
| Section | Case Report(s) | |
| DOI | https://doi.org/10.18502/ijaai.v19i3.3460 | |
| PMID | 32615666 | |
| Keywords | ||
| Autoimmune polyglandular syndrome Photophobia Keratitis Vision disorders | ||
| Rights and permissions | |
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
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. 2020;19(3):313-317.
