Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity, resulting from variation in the autoimmune regulator gene (). Pathogenic variants in the gene result in autoimmunity typically involving endocrine organs with nonendocrine organs less commonly affected. Hepatitis associated with APECED has emerged as a potentially fatal complication with higher reported prevalence in the Americas. We describe a case of a 3-year-old boy presenting with hepatitis from APECED without classical clinical diagnostic criteria. This case highlights the importance of APECED in the evaluation of hepatitis given response to immunomodulator treatment and risk of fulminate liver failure.
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| http://dx.doi.org/10.14309/crj.0000000000001235 | DOI Listing |
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Bronchiectasis in a patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: a case report.
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High-throughput DNA sequencing has accelerated the discovery of disease-causing genetic variants, yet only in 10-40% of cases yield a genetic diagnosis. Increased implementation of genome sequencing has enabled a deeper exploration of the noncoding genome and recognition of noncoding variants as major contributors to disease. In a recent study, we identified a deep intronic variant in the AutoImmune REgulator () gene (c.
View Article and Find Full Text PDFWhere AIRE we now? Where AIRE we going?
Curr Opin Allergy Clin Immunol
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Rare Diseases Referral Center, Internal Medicine 1, Ca' Foncello Hospital, AULSS2 Marca Trevigiana, Treviso.
Purpose Of Review: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator ( AIRE ) gene expression in central and peripheral tolerance, and the implications of its impairment in the genetic and pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifestations with insight into possible treatment options.
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A deep intronic splice-altering variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
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Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.
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- APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
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- They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
Decreased T-cell response against latent cytomegalovirus infection does not correlate with anti-IFN autoantibodies in patients with APECED.
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Translational Immunology Research Program, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
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- APECED is a genetic immune disorder that affects various hormone-producing glands and increases vulnerability to candidiasis, with recent findings linking it to more severe COVID-19 and varicella infections.
- In a study comparing APECED patients and healthy individuals, a higher percentage of APECED patients had anti-CMV IgG antibodies, although their antibody levels weren't significantly different from controls.
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