Immunodeficiency 32B D81.4

Rare autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in the development or function of immune cells, including monocytes, dendritic cells, and natural killer (NK) cells.

The cause is a mutation in the IRF8 gene.

Patients are particularly susceptible to viral diseases (Mace et al. 2017).

1. Bustamante J et al. (2014) Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol 26:454-470.
2. DiNardo CD et al.(2016) Mutations in AML: prognostic and therapeutic implications. Hematol. Am Soc Hematol Educ Program 2016:348-355.
3. Hambleton S et al (2011) IRF8 mutations and human dendritic-cell immunodeficiency. New Eng. J Med 365: 127-138.
4. Liss F et al (2021) IRF8 Is an AML-Specific Susceptibility Factor That Regulates Signaling Pathways and Proliferation of AML Cells. Cancers (Basel) 13:764.
5. Mace EM et al (2017) Biallelic mutations in IRF8 impair human NK cell maturation and function. J Clin Invest 127: 306-320.