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Reviewing Omenn syndrome
K Aleman1, J G Noordzij, R de Groot
1Department of Paediatrics, University Hospital Rotterdam, The Netherlands.
European Journal of Pediatrics
|January 25, 2002
Summary
Omenn syndrome, a severe combined immunodeficiency, presents with distinct symptoms like rash and enlarged organs. Early diagnosis and hematopoietic stem cell transplantation are crucial for reducing its high mortality rate.
Area of Science:
- Pediatrics
- Immunology
- Genetics
Background:
- Omenn syndrome is a severe combined immunodeficiency with high mortality.
- Early recognition and treatment are vital for patient survival.
Purpose of the Study:
- To review clinical symptoms, laboratory findings, and pathology of Omenn syndrome.
- To support early diagnosis in suspected cases.
Main Methods:
- Literature search of Medline (1965-1999).
- Inclusion of 68 pediatric cases (67 from literature, 1 new case).
Main Results:
- Median symptom onset at 4 weeks.
- Key symptoms: rash (98%), hepatosplenomegaly (88%), lymphadenopathy (80%), infections (72%), alopecia (57%).
- Laboratory findings: elevated WBC (55%), decreased B-cells, elevated T-cells, high IgE (91%).
Conclusions:
- Omenn syndrome is fatal if untreated.
- Early diagnosis and rapid treatment (bone marrow or cord blood stem cell transplantation) can reduce mortality.