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- Journal Article
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- open access
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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- Conference Paper
- C3
- open access
Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic
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- Journal Article
- A1
- open access
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia
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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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- Journal Article
- A1
- open access
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
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Properdin deficiency in a child presenting with recurrent lower respiratory tract infections
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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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A novel STAT1 mutation in a patient with pneumocystis jiroveci and chronic mucocutaneous candidiasis
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- Journal Article
- A1
- open access
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1) : chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding