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Immunodeficiency 92

Summary

Immunodeficiency-92 (IMD92) is an autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Infectious agents are broad, including bacterial, viral, fungal, and parasitic, including Cryptosporidium and Mycobacteria. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. Hematopoietic stem cell transplantation may be curative (summary by Beaussant-Cohen et al., 2019 and Levy et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C-Rel, HIVEN86A, IMD92, REL
    Summary: REL proto-oncogene, NF-kB subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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