Identification of <i>AIRE</i> pathogenic variants ends diagnostic odyssey for Saudi child with infantile-onset keratoconjunctivitis as an early sign of autoimmune polyglandular syndrome type1; a case report.

Alkhalifah, Muhannad; AlMezaine, Hani; AlMoallem, Basamat

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.

Alkhalifah, Muhannad; AlMezaine, Hani; AlMoallem, Basamat.

Afiliação

Alkhalifah M; Anterior Segment Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
AlMezaine H; Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
AlMoallem B; Department of Ophthalmology, King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia.

Ophthalmic Genet ; 45(1): 59-62, 2024 Feb.

Article em En | MEDLINE | ID: mdl-37017251

Assuntos

Ceratoconjuntivite; Poliendocrinopatias Autoimunes; Feminino; Humanos; Lactente; Cicatriz; Mutação; Poliendocrinopatias Autoimunes/diagnóstico; Poliendocrinopatias Autoimunes/genética; Arábia Saudita; Síndrome; Fatores de Transcrição/genética

Palavras-chave

AIRE gene; Autoimmune polyglandular syndrome type 1; infantile onset; keratoconjunctivitis

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Poliendocrinopatias Autoimunes / Ceratoconjuntivite Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Infant País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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