Chronic bilateral keratitis in autoimmune polyendocrinopathy‐candidiadis‐ectodermal dystrophy (APECED)

Merenmies, Lauri; Tarkkanen, Ahti

doi:10.1034/j.1600-0420.2000.078005532.x

Cited by 47 publications

(43 citation statements)

References 13 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%

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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%

“…Retinal detachment was described in APS-1 patients. Among 69 patients only 1 developed retinal detachment whereas 17 of 69 patients had keratitis [20]. Metaphyseal dysplasia was noticed in 3 of 46 patients, 1 of those had severe and progressive manifestation.…”

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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“…Keratoconjunctivitis may also occur. This affects as many as 20% of patients with APS-1 and may progress to blindness [24]. This inflammation of the eye is a serious component of APS-I and requires careful monitoring and treatment.…”

Section: Clinical Characteristicsmentioning

confidence: 99%

Polyendocrine autoimmunity

Barker

2005

Curr Diab Rep

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Autoimmune polyendocrine disorders are characterized by the presence of more than one autoimmune endocrine disease. Study of such disorders has provided unique insight into the pathogenesis of autoimmunity and the development of tolerance in the normal individual. Autoimmune polyendocrine syndromes I and II have distinctive inheritance patterns, genetic causes, component diseases, and implications for follow-up. Care for individuals with these diseases requires monitoring for additional autoimmune disorders and aggressive treatment of identified diseases to prevent morbidity and mortality in affected individuals.

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“…Other clinical manifestations -Cholelithiasis (24), iridocyclitis, optic nerve atrophy, retinal degeneration (29), calcified plaques of the tympanic membranes (4,14), selective IgA deficiency, hypergammaglobulinemia (4), hemolytic anemia (11,12), hypoplastic anemia (12), autoimmune thrombocytopenia (25), scleroderma (11,14), Sjögren syndrome (11,12,29), lichen planus (11,14), hypermineralocorticoidism-like state (12,14), reversible metaphyseal dysplasia (30), progressive myopathy (31).…”

Section: Clinical Manifestations Of Aps-1mentioning

confidence: 99%

Autoimmune polyendocrine syndrome type 1: case report and review of literature

Weiler

Silva

Lazaretti-Castro

2012

Arq Bras Endocrinol Metab

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SUMMARYAutoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for selftolerance. Clinical manifestations are widely variable. Although the classic triad is composed by mucocutaneous candidiasis, hypoparathyroidism and adrenal failure, many other components may develop. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout their lifespan. This article describes the case of a patient with the disease, and reviews literature data on the epidemiology, clinical course, immunogenetic aspects, diagnosis and treatment of the syndrome. Arq Bras Endocrinol Metab. 2012;56(1):54-66 SUMÁRIOSíndrome poliglandular autoimune tipo 1 é uma rara desordem autossômica recessiva caracterizada por ataque autoimune a diversos órgãos. A doença é causada por mutações no gene AIRE (autoimmune regulator), resultando em uma proteína AIRE defeituosa, proteína esta essencial para a manutenção da autotolerância. As manifestações clínicas são extremamente variáveis. A tríade clássica é composta por candidíase mucocutânea crônica, hipoparatiroidismo e insuficiência adrenal, porém diversos outros componentes podem estar presentes. A base do tratamento é a reposição das diversas deficiências, e os pacientes devem ser acompanhados por toda a vida. Este artigo descreve o caso de uma paciente com a síndrome e apresenta uma revisão sobre a epidemiologia, quadro clínico, aspectos imunogenéticos, diagnóstico e tratamento da desordem, de acordo com a literatura publicada. Arq Bras Endocrinol Metab. 2012;56(1):54-66

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Chronic bilateral keratitis in autoimmune polyendocrinopathy‐candidiadis‐ectodermal dystrophy (APECED)

Cited by 47 publications

References 13 publications

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

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

Polyendocrine autoimmunity

Autoimmune polyendocrine syndrome type 1: case report and review of literature

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