| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6062625 | Journal of Allergy and Clinical Immunology | 2016 | 18 Pages |
Abstract
Hypomorphic CARD9 deficiency caused by p.Y91H results in adult-onset disease with variable penetrance and expressivity. Our findings establish the CARD9/RASGRF1/ERK/GM-CSF axis as critical to the pathophysiology of sCNSc.
Keywords
phorbol 12-myristate 13-acetateRASGRF1Mucosa-associated lymphoid tissue lymphoma translocation protein 1Glyceraldehyde-3-phosphate dehydrogenase geneFrench-CanadianCSF2MALT1p-ERKBCL10caspase recruitment domain-containing protein 9CARD9LCLGM-CSFGUSBERKGAPDHNF-κBPhosphorylated ERKPMACNScentral nervous systemnuclear factor κBwild-typeSingle nucleotide polymorphismSNPCandidiasisextracellular signal-regulated kinase
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Authors
Christina MSc, Nancy MSc, Ji Bin PhD, Catherine MD, Marie-Christine MD, PhD, Jeffrey MD, Duncan MSc, Martine MD, Isabelle MD, Simon MD, Jean-Nicolas MD, Fiona MSc, Mélanie BScN, Marcel A. MD, Donald C. MD, William D. MBBS, PhD, Donald C. MD,