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GTR Home > Conditions/Phenotypes > Histiocytic medullary reticulosis

Histiocytic medullary reticulosis

Synonyms
Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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

69 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (69 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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