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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Omenn syndrome with mutation in RAG1 gene
I Cherkaoui Jaouad1, K Ouldim, S Ali Ou Alla
1Department of Medical Genetics, National Institute of Health, Rabat, Morocco. imane_cj@yahoo.fr
Indian Journal of Pediatrics
|November 18, 2008
Summary
Omenn syndrome, a severe combined immunodeficiency, can be caused by mutations in recombination activating genes (RAG1/RAG2). This case highlights a RAG1 deletion in a Moroccan infant, emphasizing early diagnosis for treatment.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Omenn syndrome is a severe combined immunodeficiency (SCID) characterized by specific clinical features.
- Genetic defects in recombination activating genes (RAG1/RAG2), ARTEMIS, IL7RA, and RMRP are known causes.
- Early identification is crucial for management and genetic counseling.
Observation:
- A four-month-old Moroccan infant presented with classic Omenn syndrome symptoms.
- The patient exhibited erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia.
- Clinical presentation suggested a severe combined immunodeficiency.
Findings:
- Genetic analysis revealed a deletion in the N-terminal part of the RAG1 gene.
- This mutation disrupts the normal function of the RAG1 protein.
- The identified RAG1 defect is consistent with the observed Omenn syndrome phenotype.
Implications:
- This case expands the known spectrum of RAG1 mutations causing Omenn syndrome.
- Highlights the importance of genetic testing for RAG1 in infants with SCID symptoms.
- Facilitates accurate genetic counseling and timely therapeutic interventions for affected families.
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