ArticleEuropean journal of pediatrics2008
Sicilian family with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and lethal lung disease in one of the affected brothers.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 35 citations in OpenAlex.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.BMC pulmonary medicine · 2024Article
- Mild COVID-19 in an APECED Patient with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) and High Titer of Type 1 IFN-Abs: A Case Report.Pathogens (Basel, Switzerland) · 2023Article
- Characterization of the clinical and genetic spectrum of autoimmune polyendocrine syndrome type 1 in Chinese case series.Orphanet journal of rare diseases · 2021Observational
- An AIREless Breath: Pneumonitis Caused by Impaired Central Immune Tolerance.Frontiers in immunology · 2020Review
- Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1.Frontiers in endocrinology · 2018Article
- Peculiarities of autoimmune polyglandular syndromes in children and adolescents.Acta bio-medica : Atenei Parmensis · 2017Review
- Epidemiological and clinical peculiarities of polyglandular syndrome type 3 in pediatric age.Italian journal of pediatrics · 2017Article
- Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.Italian journal of pediatrics · 2017Article
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.Journal of endocrinological investigation · 2013Review
- Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy in Calabria: clinical, immunological and genetic patterns.Journal of endocrinological investigation · 2012Article
- Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) in Sicily: confirmation that R203X is the peculiar AIRE gene mutation.Journal of endocrinological investigation · 2012Article
- Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen.Proceedings of the National Academy of Sciences of the United States of America · 2009Article
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10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe report the clinical and immunological features of the autoimmune regulator gene (AIRE) in two Sicilian brothers with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). They were compound heterozygotes with R203X/R257X. Both had oral candidiasis since the first year of life and later developed hypoparathyroidism and Addison disease. The elder brother had experienced recurrent lower respiratory infections since 5 years of age and over the years developed severe obstructive lung disease with bronchiectasis, which led to death at 18 years of age. Both brothers had circulating autoantibodies against tryptophan hydroxylase and serotonin-producing cells were absent in the duodenal mucosa. This was associated with intestinal dysfunction in only the elder brother.
conclusion(1) In the first Sicilian family with APECED reported up to now we found a heterozygous mutation that had been previously reported only once. (2) In the older brother of this family we observed a severe and lethal lung disease; this case adds to a growing literature describing this association between APECED and respiratory illnesses. (3) Tryptophan hydroxylase antibodies might be hypothesized to be the marker of an autoimmune gastrointestinal illness possibly associated with APECED.
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