Childhood polyarthritis as early manifestation of autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy syndrome

Maria Gutierrez, Julieta Gilson, Jamie Zacharias, Faoud Ishmael, C. April Bingham

Research output: Contribution to journalArticle

Abstract

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene. We also conducted a literature review of the main characteristics of inflammatory arthritis in APECED patients. Our case and review demonstrate that (1) inflammatory arthritis, although rare, can be an early manifestation of APECED; (2) the diagnosis of APECED should be considered if mucocutaneous candidiasis, multiple organ-specific autoimmune manifestations, polyendocrinopathy, especially hypoparathyroidism or adrenal failure, or ectodermal dystrophy accompany joint symptoms; and (3) genotyping interpretation should take into account that mutations are found in the 14 exons of the gene, compound heterozygosity is common, and in some cases, only one or no mutated alleles are found.

Original languageEnglish (US)
Article number377
JournalFrontiers in Immunology
Volume8
Issue numberAPR
DOIs
StatePublished - Apr 18 2017

Fingerprint

Autoimmune Polyendocrinopathies
Arthritis
Hypoparathyroidism
Regulator Genes
Mutation
Candidiasis
Immune System Diseases
Interstitial Lung Diseases
Autoantibodies
Hepatitis
Exons
Joints
Alleles
Genes

Keywords

  • Arthtritis
  • Autoimmune polyendocrinopathy syndrome I
  • Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy
  • Autoimmune regulator
  • Chronic mucocutaneous candidiasis
  • Hypoparathyroidism

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

Childhood polyarthritis as early manifestation of autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy syndrome. / Gutierrez, Maria; Gilson, Julieta; Zacharias, Jamie; Ishmael, Faoud; April Bingham, C.

In: Frontiers in Immunology, Vol. 8, No. APR, 377, 18.04.2017.

Research output: Contribution to journalArticle

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