Presentation
Scientific Publications
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2024Journal (source)J Exp Med
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I I...
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2024Journal (source)J Exp Med
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus an...
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2020Journal (source)J. Clin. Invest.
Inherited human IFN-γ deficiency underlies mycobacterial disease.
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2018Journal (source)Sci Immunol
Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.
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2018Journal (source)Sci Immunol
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous...
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2018Journal (source)Hum. Mol. Genet.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by ...
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2018Journal (source)Nat. Immunol.
Disruption of an antimycobacterial circuit between dendritic and helper T cel...
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2018Journal (source)J. Clin. Invest.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
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2018Journal (source)J. Clin. Immunol.
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici...
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2018Journal (source)Elife
IRF4 haploinsufficiency in a family with Whipple's disease.
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2017Journal (source)Sci Rep
An eQTL variant of ZXDC is associated with IFN-γ production following Mycobac...