about
DOCK8 deficiency impairs CD8 T cell survival and function in humans and miceHuman TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to virusesIRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humansInborn errors of the development of human natural killer cellsA human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infectionRequirement for both IL-12 and IFN-gamma signaling pathways in optimal IFN-gamma production by human T cellsHerpes simplex virus encephalitis in human UNC-93B deficiencyInterferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infectionHuman RHOH deficiency causes T cell defects and susceptibility to EV-HPV infectionsGenome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men.Inheritable defects in interleukin-12- and interferon-gamma-mediated immunity and the TH1/TH2 paradigm in man.Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds.A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion.Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcomaInherited MST1 deficiency underlies susceptibility to EV-HPV infectionsImpairment of mycobacterial immunity in human interleukin-12 receptor deficiency.A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.A partial form of recessive STAT1 deficiency in humans.Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiencyOsteopontin expression correlates with clinical outcome in patients with mycobacterial infection.Inborn errors of anti-viral interferon immunity in humans.Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.Human primary immunodeficiencies of type I interferons.Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses.Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Emmanuelle Jouanguy
@ast
Emmanuelle Jouanguy
@en
Emmanuelle Jouanguy
@es
Emmanuelle Jouanguy
@fr
Emmanuelle Jouanguy
@nl
Emmanuelle Jouanguy
@sl
type
label
Emmanuelle Jouanguy
@ast
Emmanuelle Jouanguy
@en
Emmanuelle Jouanguy
@es
Emmanuelle Jouanguy
@fr
Emmanuelle Jouanguy
@nl
Emmanuelle Jouanguy
@sl
prefLabel
Emmanuelle Jouanguy
@ast
Emmanuelle Jouanguy
@en
Emmanuelle Jouanguy
@es
Emmanuelle Jouanguy
@fr
Emmanuelle Jouanguy
@nl
Emmanuelle Jouanguy
@sl
P1053
H-7901-2017
P106
P21
P31
P3829
P496
0000-0002-7358-9157