Immunological findings in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) and their family members: Are heterozygotes subclinically affected?

Anna Šedivá, Daniela Čihǎkovǎ, Jan Lebl

Research output: Contribution to journalArticlepeer-review

Abstract

Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; APS-1) is an autosomal recessive autoimmune disease, caused by mutations in the AIRE (autoimmune regulator) gene. Due to the proposed role of AIRE in central immune tolerance, the immune investigation of four females diagnosed with APECED, their siblings, parents and 14 age-matched controls was performed. The parameters analyzed included immunoglobulins, autoantibodies, cellular immunity and production of cytokines IFNγ, IL-4 and IL-10, reflecting Th1xTh2 balance. Low IFNγ levels (455 ± 191 pg/ml) were detected in all affected girls compared to controls (910 ± 406 pg/ml). Two girls with homozygous R257X mutations showed similarly marked elevation of IgM and increase of CD3+CD4+ lymphocytes. Positive autoantibodies against smooth muscle were found in one affected girl; another girl and her mother had antibodies against gastric parietal cells. Interestingly, all fathers had dramatically elevated levels of IgA and activated T lymphocytes. High frequency of abnormal immune results among parents is a novel finding which might suggest a subclinical immune deficit in heterozygotes with AIRE mutations.

Original languageEnglish (US)
Pages (from-to)1491-1496
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume15
Issue number9
DOIs
StatePublished - 2002
Externally publishedYes

Keywords

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
  • Autoimmunity
  • Immune tolerance
  • Interferon gamma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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