Presentation
Scientific Publications
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2024Journal (source)J Exp MedIncontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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Journal (source)Proc Natl Acad Sci U S A
The risk of COVID-19 death is much greater and age dependent with type I IFN ...
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2021Journal (source)Sci Immunol
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected indi...
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2021Journal (source)Am J Hum Genet
A computational approach for detecting physiological homogeneity in the midst...
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2020Journal (source)Science
Autoantibodies against type I IFNs in patients with life-threatening COVID-19.
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2019Journal (source)Nat. Med.
Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 a...
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2019Journal (source)Sci Immunol
Chronic mucocutaneous candidiasis and connective tissue disorder in humans wi...
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2019Journal (source)J. Exp. Med.
Severe influenza pneumonitis in children with inherited TLR3 deficiency.
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2019Journal (source)J. Exp. Med.
Inherited IL-18BP deficiency in human fulminant viral hepatitis.
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2018Journal (source)Elife
IRF4 haploinsufficiency in a family with Whipple's disease.
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2017Journal (source)J. Am. Coll. Cardiol.
Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.