Omenn syndrome
Omenn syndrome | |
---|---|
Omenn syndrome has an autosomal recessive pattern of inheritance. | |
Specialty | Hematology |
Omenn syndrome is an
Symptoms and signs
The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the mutant RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto-reactive and cause the GVHD phenotype.[citation needed]
A characteristic symptom is chronic inflammation of the skin, which appears as a red rash
Genetics
Omenn syndrome is caused by a partial loss of RAG gene function and leads to symptoms similar to
Diagnosis
In order to diagnose a patient specifically with Omenn Syndrome, an autosomal recessive form of SCID, a physician can order a genetic testing panel to look for 22q11 microdeletions or mutations of the RAG1/RAG2 genes.[5]
Treatment
The only treatment for Omenn syndrome is
See also
- Purine nucleoside phosphorylase deficiency
- List of cutaneous conditions
References
- S2CID 32270945.
- ^ ISBN 9781136977107.
- ^ ISBN 978-0-8153-4441-4.
- PMID 24666246.
- ^ U.S. Department of Health and Human Services, National Institutes of Health, Genetic and Rare Diseases Information Center (last updated 2016). Omenn Syndrome. Retrieved from: https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome