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Related Experiment Videos

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
PubMed
Summary
This summary is machine-generated.

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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%).

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  • 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.