نتایج جستجو برای: primary immunodeficiency diseases pid
تعداد نتایج: 1504298 فیلتر نتایج به سال:
RATIONALE With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency. PATIENT CONCERNS We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir. DIAGNOSES Next-generation sequencin...
RATIONALE Primary cardiac lymphoma (PLC) is an extremely uncommon malignancy. PCL is more common in secondary immunodeficient patients. In this report, we describe a unique case of PLC who had been diagnosed as a STK4 deficient patient. This case is the first Primary immunodeficiency (PID) patient developing PCL in the world. PATIENT CONCERNS An eleven-year-old girl, a known case of PID, was ...
BACKGROUND Subcutaneous or intravenous immunoglobulin replacement is the mainstay of treatment for most patients with primary immunodeficiency disease (PID). The purpose of this study was to gain an understanding of how existing PID therapies affect patient lives and to identify desired improvements to immunoglobulin treatments. METHODS An online questionnaire was made available through the I...
Primary immunodeficiency are rare diseases, approximately 1 per 10 000 children are affected. Since 1980, the Department of Immunology at the Childrens’ Memorial Health Institute (CMHI) is the reference centre for PIDs for the whole of Poland. Up to now, 1,098 children with PID have been diagnosed. Since 2010, the Department of Immunology CMHI has been nominated as a Jeffrey Modell Foundation D...
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