Identification of AIRE pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.
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DOI: 10.1080/13816810.2023.2196565
Abstract: PURPOSE Chronic keratoconjunctivitis is a rare presentation of autoimmune polyglandular syndrome type 1 (APS-1) during the first year of life. Herein, We report a case of a 10-month-old baby girl with chronic bilateral keratoconjunctivitis, corneal… read more here.
Keywords: identification aire; polyglandular syndrome; aire pathogenic; autoimmune polyglandular ... See more keywords