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GTR Home > Conditions/Phenotypes > Immunodeficiency 79

Immunodeficiency 79

Synonyms
CD4 deficiency

Summary

Immunodeficiency-79 (IMD79) is an autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections beginning in childhood, but the phenotype overall is mild compared to other primary immunodeficiencies. Patients may not come to attention until adulthood. Laboratory studies show absence of the CD4 antigen on T cells, monocytes, and dendritic cells, with variable secondary abnormalities in B cells and NK cells due to lack of CD4+ T cells (summary by Lisco et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CD4mut, IMD79, Leu-3, OKT4D, T4, CD4
    Summary: CD4 molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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