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Omenn syndrome; familial reticuloendotheliosis with eosinophilia
Pathology:
- activated, anergic, oligoclonal T-cells
- restricted T-cell receptor (TCR) repertoire
Genetics:
1) caused by mutation in RAG1 & RAG2 genes
2) caused by mutations in DCLRE1C gene
Clinical manifestations:
1) severe combined immunodeficiency associated with:
a) erythrodermia
b) hepatosplenomegaly
c) lymphadenopathy
d) alopecia
Laboratory:
- elevated T-lymphocyte counts
- generally lack B-lymphocytes
- normal natural killer NK cell function
- hypereosinophilia
- high IgE levels
Specific
Omenn syndrome/RAG1 mutation associated
Omenn syndrome/RAG2 mutation associated
General
familial histiocytic reticulosis; familial hemophagocytic reticulosis; familial hemophagocytic lymphohistiocytosis; familial erythrophagocytic lymphohistiocytosis
Database Correlations
OMIM 603554
References
OMIM :accession 603554