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An infant with omenn syndrome: A case report
Ubaid Khan1, Rana Uzair Ahmad1, Ayesha Aslam2
1Department of Medicine, King Edward Medical University Lahore, Pakistan.
Annals of Medicine and Surgery (2012)
|February 7, 2022
Summary
Omenn syndrome, a rare genetic disorder causing severe combined immunodeficiency, presents significant health risks in infants. Early diagnosis and treatment, such as bone marrow transplantation, are crucial for managing this condition.
Area of Science:
- Genetics and Immunology
- Pediatric Disorders
Background:
- Omenn syndrome is a rare, autosomal recessive disorder characterized by severe combined immunodeficiency.
- It typically presents in infancy, posing significant health challenges.
- This case report focuses on a child diagnosed with Omenn syndrome in Pakistan.
Observation:
- The child was initially misdiagnosed with several other conditions before receiving an Omenn syndrome diagnosis.
- At three months old, the child exhibited symptoms increasing susceptibility to infections and nutritional deficiencies.
Findings:
- Omenn syndrome results from missense mutations in recombinase activating genes.
- Affected individuals are prone to infections of the skin, lungs, and joints, as well as sepsis.
- Pneumonia and septic shock are common causes of mortality.
Implications:
- Prompt diagnosis and intervention are critical for improving outcomes in Omenn syndrome.
- Treatment options include bone marrow transplantation or lymphocytic stimulation, tailored to immunodeficiency severity.
- Understanding the genetic basis and clinical presentation aids in managing this rare disorder.
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