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-Reference-Cited by-同舟云学术

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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

Published:2023-04-05 Issue:1 Volume:45 Page:59-62
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Alkhalifah Muhannad¹,AlMezaine Hani²³,AlMoallem Basamat²³^ORCID

Affiliation:

1. Anterior Segment Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

2. Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia

3. Department of Ophthalmology, King Saud University Medical City (KSUMC), Riyadh, Saudi Arabia

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2196565

Reference15 articles.

1. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

3. Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity

4. Polyglandular autoimmune syndromes

5. The Syndrome of Keratoconjunctivitis, Superficial Moniliasis, Idiopathic Hypoparathyroidism and Addison's Disease* *From the Wilmer Institute of The Johns Hopkins University and Hospital.

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