dr. Simon Tavernier
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Integrin expression changes on the T cells subsets influence the response to vedolizumab in inflammatory bowel disease patients
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- Journal Article
- A1
- open access
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
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cDNA and targeted RNA sequencing to unravel hidden genetic defects in PID patients with only one-disease related variant in genes with recessive inheritance
(2020) -
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
(2020) -
First patient with bloom syndrome caused by a deep intronic variant leading to pseudoexon activation
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GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner
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Pitfalls in diagnosing complement factor I deficiencies : from clinical phenotype to laboratory diagnosis
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Integrin expression changes on the T cell subsets influence the response to vedolizumab in inflammatory bowel disease patients
-
GATA2 deficiency and hematopoietic stem cell transplantation : challenges for the clinical practitioner
-
- Journal Article
- A1
- open access
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation