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GTR Home > Conditions/Phenotypes > Immunodeficiency 77

Immunodeficiency 77

Summary

Immunodeficiency-77 (IMD77) is an immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Skin and pulmonary infections are the most common, consistent with increased susceptibility to epithelial cell infections. The age at onset is highly variable: some patients have recurrent infections from childhood, whereas others present in late adulthood. The limited number of reported patients are all female, suggesting incomplete penetrance or a possible sex-influenced trait. Patient cells, mainly macrophages, show impaired killing of intracellular bacteria and organisms, including nontubercular mycobacteria, although there is also impaired killing of other organisms, such as Pseudomonas, Candida, and Aspergillus. Treatment with gamma-IFN (IFNG; 147570) may be a therapeutic option (summary by McCormack et al., 2017 and Merselis et al., 2020). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD77, MPG1, MPS1, Mpg-1, P-2, MPEG1
    Summary: macrophage expressed 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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