DISSEMINATED CRYPTOCOCCAL INFECTION IN PATIENT WITH NOVEL JAK3 MUTATION SEVERE COMBINED IMMUNODEFICIENCY, WITH RESOLUTION AFTER STEM CELL TRANSPLANTATION

作者:Alsum Zobaida; Al Saud Bandar; Al Ghonaium Abdulaziz; Bin Hussain Ibrahim; Alsmadi Osama; Al Mousa Hamoud; Ayas Mohab; Al Dhekri Hasan; Arnaout Rand; Al Muhsen Saleh*
来源:Pediatric Infectious Disease Journal, 2012, 31(2): 204-206.
DOI:10.1097/INF.0b013e318239c3b3

摘要

Disseminated cryptococcal infection is the second most common cause of death after tuberculosis in acquired immune deficiency syndrome patients. Surprisingly, it has been reported only in few patients with primary immunodeficiency diseases. Herein, we report the clinical presentation and outcome of a 23-month-old boy with novel JAK3 mutation severe combined immunodeficiency disease complicated by severe disseminated cryptococcal infection.

  • 出版日期2012-2