Résultat de recherche

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Jean-Laurent CASANOVA

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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Laurent Abel

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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Jean-Laurent CASANOVA

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HCV-Associated Liver Fibrosis and HSD17B13.

Aurélie Cobat

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A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Jacinta Bustamante , Jean-Laurent CASANOVA , Laurent Abel

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Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency.

Jean-Laurent CASANOVA

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Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Jean-Laurent CASANOVA

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Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Jean-Laurent CASANOVA

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The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

Jean-Laurent CASANOVA

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CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.

Laurent Abel

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A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Jacinta Bustamante

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