A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection.

Capsule Summary We present an extended clinical phenotype of a patient with STK4 deficiency associated with mycobacterial infection. Seven patients have been treated with HSCT; four patients died of a combination of infectious, toxicity related and graft-versus-host disease (GVHD) complications, and the remaining three patients are alive and apparently cured of their immunodeficiency [[5]]. We report the first Egyptian case with STK4 mutation who developed mycobacterial infection, expanding our knowledge on the spectrum of infections that these patients are susceptible to. [Extracted from the article]