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GTR Home > Conditions/Phenotypes > Histiocytic medullary reticulosis

Summary

Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22. [from OMIM]

Available tests

75 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: A-SCID, DCLREC1C, RS-SCID, SCIDA, SNM1C, DCLRE1C
    Summary: DNA cross-link repair 1C

  • Also known as: RAG-1, RNF74, RAG1
    Summary: recombination activating 1

  • Also known as: RAG-2, RAG2
    Summary: recombination activating 2

Clinical features

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