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Characterization of autoimmune eye disease in association with Down’s syndrome

Characterization of autoimmune eye disease in association with Down’s syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10810817

Characterization of autoimmune eye disease in association with Down’s syndrome

About this item

Full title

Characterization of autoimmune eye disease in association with Down’s syndrome

Publisher

London: Nature Publishing Group UK

Journal title

Eye (London), 2024-02, Vol.38 (2), p.386-392

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Background
Autoimmunity and deficiency of the transcription factor autoimmune regulator protein (AIRE) are known associations with Down syndrome (DS). Lack of AIRE abrogates thymic tolerance. The autoimmune eye disease associated with DS has not been characterized. We identified a series of subjects with DS (
n
 = 8) and uveitis. In three...

Alternative Titles

Full title

Characterization of autoimmune eye disease in association with Down’s syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10810817

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10810817

Other Identifiers

ISSN

0950-222X,1476-5454

E-ISSN

1476-5454

DOI

10.1038/s41433-023-02706-6

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