Journal
JOURNAL OF CLINICAL IMMUNOLOGY
Volume 36, Issue 5, Pages 441-449Publisher
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-016-0296-z
Keywords
DOCK8; combined immunodeficiency; hyperimmunoglobulinemia E syndrome; tissue residen memory T cells (T-RM); cytothripsis; cutaneous virus infection; somatic reversion; genetics; eczema; food allergy; hematopoietic stem cell transplantation
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Funding
- Intramural Research Program, NIH, National Institute of Allergy and Infectious Diseases
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Since the discovery of the genetic basis of DOCK8 immunodeficiency syndrome (DIDS) in 2009, several hundred patients worldwide have been reported, validating and extending the initial clinical descriptions. Importantly, the beneficial role of hematopoietic stem cell transplantation for this disease has emerged, providing impetus for improved diagnosis. Additionally, several groups have further elucidated the biological functions of DOCK8 in the immune system that help explain disease pathogenesis. Here, we summarize these recent developments.
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