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Pernicious Anemia in a Pediatric Patient With Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.
Konstandina Kokinakos1, Marissa Botwinick1,2, Melissa Weidner1
1Department of Pediatrics, Rutgers, Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA.
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients can develop vitamin B12 deficiency due to pernicious anemia. Early screening is vital for this rare pediatric complication.
Area of Science:
- Immunology
- Genetics
- Endocrinology
Background:
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disorder caused by AIRE gene mutations.
- AIRE gene mutations impair central immune tolerance development.
- APECED classically presents with candidiasis, hypoparathyroidism, and adrenal insufficiency.
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