Presentation
Scientific Publications
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2025Journal (source)Lancet Neurol
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
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2024Journal (source)HGG Adv
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2024Journal (source)HGG Adv
Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 i...
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2023Journal (source)Genome Med
Rare predicted loss-of-function variants of type I IFN immunity genes are ass...
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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)Sci Immunol
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life...
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2021Journal (source)Med (N Y)
A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisyst...
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2021Journal (source)J Clin Immunol
Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue ...
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Journal (source)Journal of Allergy Clinical Immunology: In practice 2020
Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among ...
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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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)Rheumatology (Oxford)
Anti-MDA5 juvenile idiopathic inflammatory myopathy: a specific subgroup defi...
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Journal (source)The New England journal of medicine 2019
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome.
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2018Journal (source)J. Exp. Med.
Life-threatening influenza pneumonitis in a child with inherited IRF9 deficie...
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Journal (source)J. Allergy Clin. Immunol.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
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Journal (source)The journal of experimental medicine 2017
Detection of interferon alpha protein reveals differential levels and cellula...