Omenn syndrome D81.2

Congenital disease with exfoliative erythroderma and combined T-cellular immunodeficiency. S.u. immunodeficiencies, T-cellular, primary, see below SCID

Autosomal recessive inheritance. For the phenotypic similar disease pattern different mutations are indicated: RAG1/RAG2-("Recombination activating genes 1/2), Artemis defect, IL7-Ralpha-, RMRP-, DCLREIC-, LIG4-gene. Thus, Omenn syndrome does not correspond to a genetically or etiologically uniform clinical picture, but to a genetically heterogeneous group of diseases (heterogeneous genotype) expressing a uniform phenotype .

IgE increased, eosinophilic lymphadenopathy, diffuse, exfoliative dermatitis, also erythroderma, recurrent infections, diffuse alopecia, hepatosplenomegaly, diarrhea.

Eosinophilia, lymphocytosis, IgE elevation, T lymphocyte abnormalities.

• Erythroderma of other genes
• psoriasis vulgaris
• atopic eczema
• Acute graft-versus-host disease
• Other immunodeficiencies from the so-called SCID family

1. Aleman K et al (2001) Reviewing Omenn syndrome. Eur J Pediatr 160: 718-725
2. Omenn GS (1965) Familial reticuloendotheliosis with eosinophilia. N Eng J Med 273: 427-432
3. Pupo RA et al (1991) Omenn's syndrome and related combined immunodeficiency syndromes: Diagnostic considerations in infants with persistent erythroderma and failure to thrive. J Am Acad Dermatol 25: 442-446
4. Uckan D et al (2005) Live-threatening neurological complications after bone marrow transplantation in children. Bone Marrow Transplant 35: 71-76
5. Velders AJ et al (1983) Omenn syndrome: familial reticulo-endotheliosis with eosinophilia and combined immunodeficiency. Br J Dermatol 108: 118-120