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- Journal Article
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- 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
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
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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AD hyper-IgE syndrome due to a novel loss-of-function mutation in STAT3 : a diagnostic pursuit won by clinical acuity
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Chronic and invasive fungal infections in a family with CARD9 deficiency
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Chronic and invasive fungal infections in a family with CARD9 deficiency (vol 36, pg 204, 2016)