Conditions / Immune
immunodeficiency 117
info · Immune
A T cell and NK cell immunodeficiency that is characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood and that has_material_basis_in homozygous mutation in the IRF1 gene on chromosome 5q31.
Signs and symptoms
- Lymphadenitis
- Decreased naive CD8+ T cell proportion
- Increased effector memory CD8+ T cell proportion
- Mediastinal lymphadenopathy
- Nontuberculous mycobacterial pulmonary infection
- Fever
- Increased CD8+ TEMRA T cell proportion
- Reduced total natural killer cell count
- Decreased central memory CD8+ T cell proportion
- Pneumonia