STK4 deficiency D81.1

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).

Autosomal recessive mutation in the STK4 gene located on chromosome 20q13.12.

1. Abdollahpour H et al. (2012) The phenotype of human STK4 deficiency. Blood 119: 3450-3457.
2. 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.
3. Nehme NT et al (2012) MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood 119: 3458-3468.