Related Experiment Video
Updated: Mar 31, 2026
07:40
Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
Published on: January 12, 2022
6.4K
BIRC4 Mutation: An Important Rare Cause of Uveitis
Matthew L Basiaga1, Pamela F Weiss, Edward M Behrens
1From the Division of Rheumatology, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.
Summary
A boy with chronic uveitis and a history of Epstein-Barr virus infection was diagnosed with X-linked lymphoproliferative syndrome type 2 due to a BIRC4 gene deletion. This highlights the need for genetic screening in similar cases.
Area of Science:
- Ophthalmology
- Immunology
- Genetics
Background:
- Chronic severe recalcitrant bilateral anterior uveitis can be challenging to manage.
- Idiopathic uveitis evaluations may not always reveal an underlying cause.
- Hemophagocytic lymphohistiocytosis (HLH) is a rare immune disorder.
Related Concept Videos
01:20The Retinoblastoma Gene
4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.9K
01:20The Retinoblastoma Gene
2.8K
2.8K