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GTR Home > Conditions/Phenotypes > IMMUNODEFICIENCY 128

Summary

Immunodeficiency-128 (IMD128) is an autosomal recessive primary immunologic disorder characterized by the onset of recurrent bacterial and viral infections in the first year of life. Affected individuals have respiratory infections, usually leading to bronchiectasis, failure to thrive, and variable chronic persistent viremia with CMV, EBV, and parvovirus B12. Laboratory studies show CD4+ T-cell lymphopenia, decreased or normal CD8+ T cells and B cell levels, decreased NK cells, poor T-cell proliferative responses, and impaired antibody production (Bainter et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: COPG, IMD128, COPG1
    Summary: COPI coat complex subunit gamma 1

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