Abstract
The importance of accurate pathological diagnosis is emphasised in the case of a newborn infant who presented with alopecia, a generalised erythrodermatous skin eruption, and hepatosplenomegaly. She subsequently developed generalised lymphadenopathy and recurrent septicaemia and died aged 2 months. The histological findings of widespread lymphocytic, histiocytic, and eosinophilic tissue infiltration, associated with thymic hypoplasia, were consistent with autosomal recessive Omenn's disease.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- FARQUHAR J. W., CLAIREAUX A. E. Familial haemophagocytic reticulosis. Arch Dis Child. 1952 Dec;27(136):519–525. doi: 10.1136/adc.27.136.519. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Junker A. K., Chan K. W., Massing B. G. Clinical and immune recovery from Omenn syndrome after bone marrow transplantation. J Pediatr. 1989 Apr;114(4 Pt 1):596–600. doi: 10.1016/s0022-3476(89)80702-4. [DOI] [PubMed] [Google Scholar]
- Karol R. A., Eng J., Cooper J. B., Dennison D. K., Sawyer M. K., Lawrence E. C., Marcus D. M., Shearer W. T. Imbalances in subsets of T lymphocytes in an inbred pedigree with Omenn's syndrome. Clin Immunol Immunopathol. 1983 Jun;27(3):412–427. doi: 10.1016/0090-1229(83)90093-4. [DOI] [PubMed] [Google Scholar]
- OMENN G. S. FAMILIAL RETICULOENDOTHELIOSIS WITH EOSINOPHILIA. N Engl J Med. 1965 Aug 19;273:427–432. doi: 10.1056/NEJM196508192730806. [DOI] [PubMed] [Google Scholar]
- Ochs H. D., Davis S. D., Mickelson E., Lerner K. G., Wedgwood R. J. Combined immunodeficiency and reticuloendotheliosis with eosinophilia. J Pediatr. 1974 Oct;85(4):463–465. doi: 10.1016/s0022-3476(74)80445-2. [DOI] [PubMed] [Google Scholar]