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GTR Home > Conditions/Phenotypes > Combined immunodeficiency with skin granulomas

Combined immunodeficiency with skin granulomas

Synonyms
Combined cellular and humoral immune defects with granulomas

Summary

A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. [from ORDO]

Available tests

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • 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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