sameAs
P184
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variantPrimary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiencyRevisiting Crohn's disease as a primary immunodeficiency of macrophagesDOCK8 deficiency impairs CD8 T cell survival and function in humans and miceThe transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to virusesMycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiencyImmunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiencyInherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunityWhole-exome-sequencing-based discovery of human FADD deficiencyIRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humansCongenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 moduleSevere mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patientsBiallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunctionPartial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in ArtemisPrimary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification CommitteePyogenic bacterial infections in humans with MyD88 deficiencyPrimary immunodeficiencies: 2009 updateSevere infectious diseases of childhood as monogenic inborn errors of immunityHuman genetic basis of interindividual variability in the course of infectionInborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypesInborn errors of the development of human natural killer cellsMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityDeciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous SystemDiscovery of single-gene inborn errors of immunity by next generation sequencingIL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation databaseDiagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiencyFunctional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutationPyogenic bacterial infections in humans with IRAK-4 deficiencyRequirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cellsX-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signalingPrimary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunityEvolutionary dynamics of human Toll-like receptors and their different contributions to host defenseB cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleenExome sequencing identifies PDE4D mutations as another cause of acrodysostosisHerpes simplex virus encephalitis in human UNC-93B deficiencyHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeFAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of functionIgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients
P50
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P50
description
Frans arts
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dokter asal Perancis
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französischer Mediziner
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hulumtues
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médicu francés
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researcher
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ricercatore
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taighdeoir
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հետազոտող
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طبيب فرنسي
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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prefLabel
Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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Jean-Laurent Casanova
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P166
P227
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P4124
jean-laurent-casanova_44093