A novel variant in AIRE causing a rare, nonclassical autoimmune polyendocrine syndrome type 1.
Mol Med Rep
; 22(2): 1285-1294, 2020 08.
Article
en En
| MEDLINE
| ID: mdl-32627016
ABSTRACT
Autoimmune polyendocrine syndrome type 1 (APS1) 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 nonclassical APS1. Diseaseassociated variants in a patient with APS1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Serum levels of calcium, phosphorus, parathyroid hormone (PTH), folliclestimulating 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 32yearold 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 APS1. Under a regular followup 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 APS1.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Factores de Transcripción
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Poliendocrinopatías Autoinmunes
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Mol Med Rep
Año:
2020
Tipo del documento:
Article