1. A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection.
- Author
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Radwan, Nesrine, El-Owaidy, Rasha, El-Sayed, Zeinab A., Abdel-Baky, Ashraf, El-Haddad, Alaa, Rashad, Hanaa, Khorshed, Eman Naguib, Platt, Craig D., Wallace, Jacqueline G., Chou, Janet, Hossny, Elham, and Reda, Shereen Medhat
- Subjects
MYCOBACTERIAL diseases ,LYMPHOPENIA ,AGAMMAGLOBULINEMIA ,BURKITT'S lymphoma ,HEMATOPOIETIC stem cell transplantation - Abstract
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]
- Published
- 2020
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