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Recent Insights in Pyrin inflammasome activation : identifying potential novel therapeutic approaches in Pyrin-associated autoinflammatory syndromes
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- Journal Article
- A1
- open access
A novel heterozygous variant in AICDA impairs Ig class switching and somatic hypermutation in human B cells and is associated with autosomal dominant HIGM2 syndrome
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- Journal Article
- A1
- open access
Mutations in RNU7-1 weaken secondary RNA structure, induce MCP-1 and CXCL10 in CSF, and result in Aicardi-Goutières syndrome with severe end-organ involvement
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Harnessing type I IFN immunity against SARS-CoV-2 with early administration of IFN-β
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Defining polysaccharide antibody deficiency : measurement of anti-pneumococcal antibodies and anti-Salmonella typhi antibodies in a cohort of patients with recurrent infections
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Properdin deficiency in a child presenting with recurrent lower respiratory tract infections
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A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
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Chronic and invasive fungal infections in a family with CARD9 deficiency (vol 36, pg 204, 2016)
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Chronic and invasive fungal infections in a family with CARD9 deficiency
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FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy
(2014) JOURNAL OF CLINICAL IMMUNOLOGY. In Journal of Clinical Immunology 34(Supplement 2). p.S211-S212 -
Screening protocols to detect respiratory infections in PID : findings from a European Survey and subclinical infection working group
(2014) JOURNAL OF CLINICAL IMMUNOLOGY. In Journal of Clinical Immunology 34(Supplement 2). p.S287-S288 -
Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation
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A novel Stat1 mutation leading to hyperphosphorylation in a patient with Pneumocystis jjiroveci and chronic mucocutaneous candidiasis
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A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)
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In vitro and in vivo functional evaluation of T-cells generated from WT1-TCR transduced human hematopoietic stem cells using the OP9-DL1 coculture system