期刊
IMMUNOLOGY AND CELL BIOLOGY
卷 97, 期 4, 页码 389-402出版社
WILEY
DOI: 10.1111/imcb.12243
关键词
Coronin 1A; cytoskeleton; DOCK2-DOCK8; primary immunodeficiency; RAC2
资金
- Research Training Program Scholarship - Australian Government
- National Health and Medical Research Council of Australia
- Early-Mid Career Research Fellowship from the New South Wales Government
- Fonds Wetenschappelijk Onderzoek Vlaanderen [G0C8517N]
- Vlaams Instituut Biotechnologie, Grand Challenges Program
- Jeffrey Modell Foundation
Inherited defects in genes encoding for proteins that are involved in the assembly and dynamics of the actin skeleton have increasingly been identified in patients presenting with primary immunodeficiencies. In this review, we summarize a subset of the recently described conditions, emphasizing the clinical features as well as the immunophenotype and pathophysiology.
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