期刊
CURRENT OPINION IN PEDIATRICS
卷 26, 期 6, 页码 704-712出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000160
关键词
cryptosporidiosis; hematopoietic stem cell transplantation; inflammatory bowel disease; interleukin-21; primary immunodeficiency
类别
资金
- DFG (Gottfried-Wilhelm-Leibniz Program) [KFO250, SFB914]
- BMBF (PID-NET)
- Reinhard-Frank Stiftung
- NIAID, NIH
Purpose of reviewThis review highlights the recent identification of human interleukin-21 (IL-21) and interleukin-21 receptor (IL-21R) deficiencies as novel entities of primary immunodeficiency.Recent findingsWe recently described the first patients with IL-21R deficiency who had cryptosporidial infections associated with chronic cholangitis and liver disease. All IL-21R-deficient patients suffered from recurrent respiratory tract infections. Immunological work-up revealed impaired B cell proliferation and immunoglobulin class-switch, reduced T cell effector functions, and variable natural killer cell dysfunctions. Recently, these findings have been extended by the discovery of one patient with a mutation in the IL21 gene. This patient predominantly manifested with very early onset inflammatory bowel disease and recurrent respiratory infections. Laboratory examination showed reduced circulating B cells and impaired B cell class-switch.SummaryHuman IL-21 and IL-21R deficiencies cause severe, primary immunodeficiency reminiscent of common variable immunodeficiency. Early diagnosis is critical to prevent life-threatening complications, such as secondary liver failure. In view of the critical role of IL-21 in controlling immune homeostasis, early hematopoietic stem cell transplantation might be considered as therapeutic intervention in affected children.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据