Related Experiment Video
Updated: May 30, 2026

Evaluation of Blood-Brain Barrier Breakdown in a Mouse Model of Mild Traumatic Brain Injury
Published on: October 18, 2024
Blau syndrome revisited
Carlos D Rose1, Tammy M Martin, Carine H Wouters
1Thomas Jefferson University and duPont Children's Hospital, Wilmington, Delaware, USA.
Purpose Of Review:
Blau syndrome is a monogenic disease resulting from mutations in nucleotide oligomerization domain 2 (NOD2) and is phenotypically characterized by granulomatous polyarthritis and uveitis. Not only there has been significant progress in disease characterization but also the biological pathways associated with NOD2 and related proteins of the innate immunity are better understood.
Recent Findings:
The phenotype of Blau syndrome has proven to be more complex than initially thought. A discussion on those manifestations will be provided in the clinical sections of this review. As more patients and pedigrees are found new mutations in the NOD2 gene have emerged and we discuss them in some detail. Due to its importance in Crohn's disease NOD2 has become the focus of intense research. A brief review of more recent advances in relevant pathways is presented and published reviews referenced for the interested reader. The granulomatous character of Blau syndrome provides an opportunity to look at possible pathogenic effects of NOD2 'gain of function'. New immunohistochemical data are briefly reviewed as well.
Summary:
Elucidation of downstream effects of NOD2 mutations could provide valuable clues to mechanisms of arthritis and uveitis in general as well as granulomatous diseases in particular.
More Related Videos
Related Concept Videos
Changes in Skin Color: Clinical Perspectives
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Genetic Lingo
Pleiotropy
Gene Duplication and Divergence
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are characterized.
Photoreceptors and Visual Pathways
X-linked Traits

