Omenn syndrome

Omenn syndrome is a rare autosomal recessive disease. The defect of this syndrome affects the maturation of both B and T lymphocytes and the activation of the T cell subset is secondary to a partially defective V(D)J recombination process.

Alternative names

Reticuloendotheliosis, familial, with eosinophilia

Severe combined immunodeficiency with hypereosinophilia

Combined immunodeficiency and reticuloendotheliosis with eosinophilia

Classification

  • Combined B and T cell immunodeficiencies
    • T-B- Severe combined immunodeficiency (SCID)

Inheritance

Autosomal recessive

OMIM

#603554 Omenn syndrome

Cross references

Phenotypically related immunodeficiencies

IDR factfile for RAG1 deficiency

IDR factfile for RAG2 deficiency

Incidence

1/100000