STK4 deficiency leads to a primary T-cell immune deficiency syndrome characterized by progressive loss of naïve T cells, recurrent bacterial, viral, and fungal infections, warts and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012).
STK4 deficiencyD81.1
DefinitionThis section has been translated automatically.
EtiopathogenesisThis section has been translated automatically.
Autosomal recessive mutation in the STK4 gene located on chromosome 20q13.12.
LiteratureThis section has been translated automatically.
- Abdollahpour H et al. (2012) The phenotype of human STK4 deficiency. Blood 119: 3450-3457.
- Jørgensen SE et al (2021) STK4 Deficiency Impairs Innate Immunity and Interferon Production Through Negative Regulation of TBK1-IRF3 Signaling. J Clin Immunol 41:109-124.
- Nehme NT et al (2012) MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood 119: 3458-3468.