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A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1

  • Authors:
    • Wen‑Bin Zheng
    • Lu‑Jiao Li
    • Di‑Chen Zhao
    • Ou Wang
    • Yan Jiang
    • Wei‑Bo Xia
    • Mei Li
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China
    Copyright: © Zheng et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1285-1294
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    Published online on: June 12, 2020
       https://doi.org/10.3892/mmr.2020.11227
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Abstract

Autoimmune polyendocrine syndrome type 1 (APS‑1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non‑classical APS‑1. Disease‑associated variants in a patient with APS‑1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Serum levels of calcium, phosphorus, parathyroid hormone (PTH), follicle‑stimulating hormone (FSH), luteinizing hormone (LH), estradiol and urinary levels of calcium were measured. Blood count assays and bone marrow morphology were investigated. The patient was a 32‑year‑old woman who had suffered from typical carpopedal spasms since she was 7 years old. She developed syncope, primary amenorrhea, intermittent diarrhea and general fatigue in subsequent years. Hypocalcemia, hyperphosphatemia, low levels of PTH and estradiol, elevated levels of FSH and LH, and absence of erythroblasts were observed, which indicated hypoparathyroidism, primary ovarian insufficiency and pure red cell aplasia. A novel heterozygous missense variant (NM_000383.2: c.623G>T, NP_000374.1: p.Gly208Val) in exon 5 of autoimmune regulator and a reported variant (NM_000383.2: c.371C>T, NP_000374.1: p.Pro124Leu) in exon 3 were detected, of which the c.623G>T variant may be a pathogenic variation that induces APS‑1. Under a regular follow‑up and therapeutic adjustment of calcium, calcitriol, hormone replacement therapy and methylprednisolone, the endocrine function and clinical symptoms of the patient were notably improved. The results of the present study expand the known genetic and phenotypical spectra of APS‑1.
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Copy and paste a formatted citation
Spandidos Publications style
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB and Li M: A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1. Mol Med Rep 22: 1285-1294, 2020.
APA
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., & Li, M. (2020). A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1. Molecular Medicine Reports, 22, 1285-1294. https://doi.org/10.3892/mmr.2020.11227
MLA
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., Li, M."A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1". Molecular Medicine Reports 22.2 (2020): 1285-1294.
Chicago
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., Li, M."A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1". Molecular Medicine Reports 22, no. 2 (2020): 1285-1294. https://doi.org/10.3892/mmr.2020.11227
Copy and paste a formatted citation
x
Spandidos Publications style
Zheng WB, Li LJ, Zhao DC, Wang O, Jiang Y, Xia WB and Li M: A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1. Mol Med Rep 22: 1285-1294, 2020.
APA
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., & Li, M. (2020). A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1. Molecular Medicine Reports, 22, 1285-1294. https://doi.org/10.3892/mmr.2020.11227
MLA
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., Li, M."A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1". Molecular Medicine Reports 22.2 (2020): 1285-1294.
Chicago
Zheng, W., Li, L., Zhao, D., Wang, O., Jiang, Y., Xia, W., Li, M."A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1". Molecular Medicine Reports 22, no. 2 (2020): 1285-1294. https://doi.org/10.3892/mmr.2020.11227
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