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- W1998762546 abstract "APECED is an autosomal recessive disorder due to mutation of autoimmune regulator (AIRE), a transcriptional regulator of autoantigen expression by medullary thymic epithelial cells. APECED is characterized by autoimmune polyendocrinopathy and chronic candidiasis. Ectodermal abnormalities such as keratoconjunctivitis or vitiligo are common. Furthermore, transient rash with fever has been reported. An association with chronic urticaria, however, has not yet been described. A female patient with chronic urticaria and APECED underwent serial clinical evaluations, genetic testing, serology, and functional histamine release assays. APECED was diagnosed at age 3 presenting with blepharospasm, keratoconjunctivitis and severe hypocalcemia in the setting of intermittent chronic diarrhea. Genetic testing revealed a13bp deletion in exon 8 of AIRE. Patient's clinical course entailed alopecia, vitiligo, tooth enamel hypoplasia, hypothyroidism with positive anti-thyroid antibodies, positive 21-hydroxylase antibodies and premature ovarian insufficiency. At age 12 she developed chronic corticosteroid dependent urticaria. FcRI serology and serum histamine release assay results supported the presence of anti-FcRI autoantibodies. Steroid sparing treatment with omalizumab led to resolution of symptoms. We present the first case report of APECED with autoimmune chronic urticaria. Further study is warranted to determine if autoimmune urticaria and antiFcRI autoantibodies are associated with the APECED spectrum of disease, as well as exon 8 specific mutations." @default.
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- W1998762546 date "2012-02-01" @default.
- W1998762546 modified "2023-09-27" @default.
- W1998762546 title "Chronic Urticaria as Possible Manifestation of Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)" @default.
- W1998762546 doi "https://doi.org/10.1016/j.jaci.2011.12.091" @default.
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