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Omenn syndrome: two case reports
Nadia Siala1, Ons Azzabi, Hakima Kebaier
1Nadia Siala, MD, Department of Pediatrics, Mongi Slim Hospital, Sidi Daoud 2046-La Marsa, Tunisia; sialanad@yahoo.com.
Omenn syndrome, a severe combined immunodeficiency, presents with varied symptoms and is often fatal. Early genetic diagnosis and prenatal screening are crucial for managing this RAG gene disorder and enabling healthy births.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Omenn syndrome is a severe combined immunodeficiency (SCID) variant.
- It results from mutations in the recombination-activating gene (RAG) genes.
- Characterized by polymorphous symptoms and a typically lethal outcome.
Observation:
- Two infants diagnosed with Omenn syndrome at 50 and 46 days old.
- Case 1 presented with typical and complete clinical and biological signs.
- Case 2 exhibited only cutaneous signs, highlighting diagnostic variability.
Findings:
- Genetic analysis confirmed Omenn syndrome in both patients.
- The specific Rag1 T631 mutation was identified.
- Hematopoietic stem cell transplantation was not feasible, leading to fatal outcomes due to severe infections.
Implications:
- Early diagnosis of Omenn syndrome is critical to prevent life-threatening infectious complications.
- Genetic testing is essential for confirming the diagnosis.
- Prenatal diagnosis offers families the opportunity to have healthy children and is vital for reproductive planning.
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