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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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A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
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Properdin deficiency in a child presenting with recurrent lower respiratory tract infections
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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)
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A case of isolated cerebral nocardiosis caused by a defect in the IL12-IFNG axis
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Acquired partial lipodystrophy : a rare clinical presentation of a complement deficiency
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Clinical presentation of hyper-IgE syndrome in a family with impaired IL-22 production and STAT3 phosphorylation