Journal
IMMUNOLOGY AND CELL BIOLOGY
Volume 97, Issue 4, Pages 389-402Publisher
WILEY
DOI: 10.1111/imcb.12243
Keywords
Coronin 1A; cytoskeleton; DOCK2-DOCK8; primary immunodeficiency; RAC2
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Funding
- 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
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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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