Article
A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.
The Journal of allergy and clinical immunology - 1 Jun 2025
Ham Hyoungjun, Isham Crescent R, Ristagno Elizabeth H, Correia Cristina, Ennis Scott M, Kandasamy Richard K, Garapati Kishore, Zhang Cheng, Kohlhagen Mindy C, Sadighi Akha Elham, Rodriguez-Quevedo Maria F, Schultz Destiny F, Chen Baoyu, Boyce Thomas G, Gregory Seth W, Kohorst Mira A, Dasari Surendra, Murray David L, Halling Kevin C, Kipp Benjamin R, Kumánovics Attila, Li Hu, Pandey Akhilesh, Billadeau Daniel D, Sadighi Akha Amir A
Abstract excerpt
BACKGROUND: The few reported patients with pathogenic IRF8 variants have manifested 2 distinct phenotypes: (1) an autosomal recessive severe immunodeficiency with significant neutrophilia and absence of or significant decrease in monocytes and dendritic cells and (2) a dominant-negative form with only a decrease in conventional type 2 dendritic cells (cDC2s) and susceptibility to mycobacterial disease....
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