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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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European Society for Immunodeficiencies guidelines for the management of patients with congenital athymia
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The hyperPed-COVID international registry : impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C
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- Journal Article
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Combined deficient response to polysaccharide-based and protein-based vaccines predicts a severe clinical phenotype
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Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity
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- Journal Article
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Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children
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Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
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Activated phosphoinositide 3-kinase δ syndrome : update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
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- Journal Article
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Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19