Immunodeficiency 77- MedGen UID:
- 1788976
- •Concept ID:
- C5543173
- •
- Disease or Syndrome
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).
Immunodeficiency 117- MedGen UID:
- 1848763
- •Concept ID:
- C5882739
- •
- Disease or Syndrome
Immunodeficiency-117 (IMD117) is an autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination and show increased susceptibility to other mycobacterial infections, such as M. avium. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon (IFNG; 147570) (et al., 2023).