ArticleJournal of endocrinological investigation2012
High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.
Article in Journal of endocrinological investigation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- The Cross-Knit Between Immune Cells and Thyroid Function in Autoimmune Thyroid Disorders: What We Can Learn from Inborn Errors of Immunity.Children (Basel, Switzerland) · 2026Review
- The multiple faces of autoimmune Addison's disease in children.Frontiers in endocrinology · 2024Review
- Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.Frontiers in immunology · 2023Article
- Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia-Case Series.Genes · 2022Article
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients.Journal of endocrinological investigation · 2021Article
- Novel Findings into AIRE Genetics and Functioning: Clinical Implications.Frontiers in pediatrics · 2016Review
- Thymic stromal alterations and genetic disorders of immune system.Frontiers in immunology · 2015Article
- Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature.BMC pediatrics · 2014Review
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy from the pediatric perspective.Journal of endocrinological investigation · 2013Review
- APECED: A Paradigm of Complex Interactions between Genetic Background and Susceptibility Factors.Frontiers in immunology · 2013Review
- Non-autoimmune subclinical hypothyroidism due to a mutation in TSH receptor: report on two brothers.Italian journal of pediatrics · 2013Article
- Precocious puberty in Turner Syndrome: report of a case and review of the literature.Italian journal of pediatrics · 2012Review
- Acute adrenal failure as the presenting feature of primary antiphospholipid syndrome in a child.Italian journal of pediatrics · 2012Article
- Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.Italian journal of pediatrics · 2012Article
- A case of galactosemia misdiagnosed as cow's milk intolerance.Italian journal of pediatrics · 2012Article
- Altered regulatory mechanisms governing cell survival in children affected with clustering of autoimmune disorders.Italian journal of pediatrics · 2012Article
- Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: insights into genotype-phenotype correlation.International journal of endocrinology · 2012Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAutoimmune polyendocrinopathy- candidiasis-ectodermal-dystrophy syndrome (APECED) is a monogenic disease whose phenotype may reveal wide heterogeneity. The reasons of this variability still remain obscure. PATIENTS AND
methodsTwo APECED siblings with identical genotype and extremely different phenotype were compared with regard to exposure to infectious triggers, autoantibodies' profile, mechanisms of peripheral tolerance, and human leukocyte antigen (HLA) haplotype. The following infectious markers were evaluated: rubella, Epstein Barr virus, cytomegalovirus, toxoplasma, varicella zoster virus, parvovirus B19, herpes simplex virus, and parainfluenza virus. APECED-related autoantibodies were detected by indirect immunofluorescence or complement fixation or enzyme- linked immunosorbent assay or radioimmunoassay. Resistance to Fas-induced apoptosis was evaluated on peripheral blood mononuclear cells (PBMC) activated with phytohemoagglutinin, the number of TCD4+CD25+ regulatory cells (Treg) was evaluated through flow-cytometry and natural killer (NK) activity through Wallac method. Perforin (PRF1) was amplified by PCR and sequenced.
resultsNo difference was observed between the siblings in common infectious triggers, extent of Fas-induced apoptosis, NK-cell activity and PRF1 sequence, the number of Tregs and HLA haplotypes.
conclusionAlthough APECED is a monogenic disease, its expressivity may be extremely different even in the same family. This variability cannot be explained by common triggering infectious agents or functional alterations of mechanisms governing peripheral tolerance.
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