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- W2050936357 abstract "INTRODUCTION: Autoimmune Polyendocrine Syndrome Type 1 (APS-1), known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy [APECED] syndrome, is seen in childhood and characterized by the coexistence of several autoimmune diseases affecting endocrine and non-endocrine glands. However, the first manifestation is usually mucocutaneous candidiasis. APS-1 is caused by mutations in a gene called AIRE (autoimmune regulator). Here, we first time report an APS-1 patient with Behçet Disease. PATIENT/METHODS: 8-year-old, white-female, well- nourished, but developmentally delayed. At 12 months of age, she was diagnosed with Behçet disease due to recurrent fever, rash, oral/vaginal ulcers, and high ESR. At age 2, she had mouth ulcers associated with candidiasis and GI discomfort due to colitis. She suffered from hearing loss, speech delay caused by recurrent serous otitis media; and hypertension, probably owing to steroid use. At age 6, hypocalcaemia detected. In the family, father has asthma, polyneuropathy, and type 1 DM. RESULTS: CBC and BMP were normal except for calcium of 4.7 mg/dl. PTH was low. Vitamin D, T4, TSH, DHEA, ACTH and cortisol levels were normal. ANA and RF were negative with an elevated ESR. CH50, specific antibody titers, lymphocyte subpopulation and responses to mitogens/antigens were normal. Immunoglobulins were normal. Parietal cell antibody, anti-GAD 65, anti-ICA 512 and anti-adrenal 21-hydroxylase auto antibodies were negative. Throat culture grew Candida albicans. Biopsies showed gastritis, duodenal mucosal atrophy, colitis and ileitis. Brain MRI, chest/sinus CT was normal. AIRE mutation [967-979del13bp] was positive in the patient. CONCLUSIONS: This case suggests that rheumatologic symptoms may also be early manifestations of APS-1." @default.
- W2050936357 created "2016-06-24" @default.
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- W2050936357 date "2007-01-01" @default.
- W2050936357 modified "2023-09-27" @default.
- W2050936357 title "Behçet Disease in a Patient with Autoimmune Polyendocrine Syndrome -Type 1" @default.
- W2050936357 doi "https://doi.org/10.1016/j.jaci.2006.11.089" @default.
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