Omenn syndrome; familial reticuloendotheliosis with eosinophilia

Pathology

• activated, anergic, oligoclonal T-cells
• restricted T-cell receptor (TCR) repertoire

Genetics

• caused by mutation in RAG1 & RAG2 genes
• caused by mutations in DCLRE1C gene

Clinical manifestations

• severe combined immunodeficiency associated with:
  • erythrodermia
  • hepatosplenomegaly
  • lymphadenopathy
  • alopecia

Laboratory

• elevated T-lymphocyte counts
• generally lack B-lymphocytes
• normal natural killer NK cell function
• hypereosinophilia
• high IgE levels

More general terms

• familial histiocytic reticulosis

More specific terms

• Omenn syndrome/RAG1 mutation associated
• Omenn syndrome/RAG2 mutation associated

Patient information

Omenn syndrome patient information

Database

• OMIM: https://mirror.omim.org/entry/603554