Ocular complications of autoimmune polyendocrinopathy syndrome type 1

Chang, Benjamin; Brosnahan, Donal; McCreery, Kathryn; Domínguez, María del Carmen; Costigan, Colm

doi:10.1016/j.jaapos.2006.06.018

Cited by 29 publications

(14 citation statements)

References 23 publications

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“…Retinal pigment degeneration was presented in 3 of 46 patients. The most frequent ocular complication in APS-1 is chronic keratitis or keratinonjunctivitis presenting in 20–35% of patients with peak of the manifestation at the age of 10–15 [3,7,20,21]. Retinal detachment was described in APS-1 patients.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

et al. 2010

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Background: Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often challenging. Aim: We aimed to provide clinical and mutational data for a large number of APS-1 patients in the Russian population. Methods: We analyzed clinical variations and component prevalence in APS-1 patients. DNA screening for autoimmune regulator (AIRE) gene mutations was performed in established APS-1 patients and in patients with the single components of chronic mucocutaneous candidiasis, hypoparathyroidism, adrenal insufficiency, or alopecia. Results: We identified 46 patients from 42 families with APS-1. Eighteen different components were present in the patients, including very rare conditions – bone dysplasia and retinitis pigmentosa. We identified 10 different mutations, 3 of which were novel (M1T, E298K, c1053_1060del). The common Finnish mutation, R257X, was the most frequent in our population, present in 64/92 (70%) of the alleles. Conclusion: We found that the R257X AIRE mutation is common in Russian APS-1 patients. The majority of children with hypoparathyroidism and chronic mucocutaneous candidiasis were carriers of the AIRE mutations.

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Section: Discussionmentioning

confidence: 99%

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

et al. 2010

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“…Topical steroids and cyclosporine A may be helpful for treatment of keratitis, but many patients on such therapy develop irreversible corneal scarring. 72 A new cyclosporine A prodrug, which may be used topically, improves bioavailability. Rituximab has been reported to have beneficial effects on pneumonitis and malabsorption, 73 while cyclosporine A has improved pancreatic insufficiency.…”

Section: Treatment and Follow-up Of Autoimmune Polyendocrine Syndromesmentioning

confidence: 99%

Autoimmune Polyendocrine Syndromes

2018

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“…Importantly, Sjögren’s Syndrome has also been described in a subset of patients with APS1 (16). In addition, keratoconjunctivitis sicca (KCS), a clinical hallmark of Sjögren’s Syndrome, has been described in a recent study of APS1 patients (17). …”

Section: Introductionmentioning

confidence: 99%