AI Article Synopsis
- Disseminated cryptococcal infection is the second leading cause of death in AIDS patients, following tuberculosis.
- It's rarely seen in patients with primary immunodeficiency diseases, making this case noteworthy.
- The report focuses on a 23-month-old boy with a new JAK3 mutation and severe combined immunodeficiency who faced a serious disseminated cryptococcal infection.
Article Abstract
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.
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| http://dx.doi.org/10.1097/INF.0b013e318239c3b3 | DOI Listing |
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