Omenn syndromeD81.2

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 13.03.2022

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Synonym(s)

Omenn's syndrome; Omenn syndrome

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HistoryThis section has been translated automatically.

Omenn, 1965

DefinitionThis section has been translated automatically.

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

EtiopathogenesisThis section has been translated automatically.

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 .

Clinical featuresThis section has been translated automatically.

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

LaboratoryThis section has been translated automatically.

Eosinophilia, lymphocytosis, IgE elevation, T lymphocyte abnormalities.

Differential diagnosisThis section has been translated automatically.

TherapyThis section has been translated automatically.

Co-treatment by pediatricians, internists.

Progression/forecastThis section has been translated automatically.

Awkward.

LiteratureThis section has been translated automatically.

  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

Authors

Last updated on: 13.03.2022

Author: Prof. Dr. med. Peter Altmeyer