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GTR Home > Conditions/Phenotypes > Immunodeficiency 70

Immunodeficiency 70

Summary

Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections, such as sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia has also been observed (summary by Thaventhiran et al., 2020). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARA3, FLARA3, HSPC068, IMD70, KLHL39, ND1, NS-1, NS1-BP, NS1BP, IVNS1ABP
    Summary: influenza virus NS1A binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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