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Immunology in natura: Clinical, epidemiological and evolutionary genetics of infectious diseases
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Quintana-Murci, L.1
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34948872289
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Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency diseases Classification Committee
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Up-to-date International Union of Immunological Societies (IUIS) classification of primary immunodeficiency diseases
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Geha, R.S.1
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Recognition of microorganisms and activation of the immune response
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Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity
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Ku CL, von Bernuth H, Picard C, et al. Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med 2007; 204:2407-2422.
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Ku, C.L.1
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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
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Filipe-Santos, O.1
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A novel X-linked recessive form of Mendelian susceptibility to mycobacterial disease
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TLR3 deficiency in patients with herpes simplex encephalitis
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This article demonstrates the critical importance of TLR3 specifically to our immunity to herpes simplex virus
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Zhang SY, Jouanguy E, Ugolini S, et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007; 317:1522-1527. This article demonstrates the critical importance of TLR3 specifically to our immunity to herpes simplex virus.
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Zhang, S.Y.1
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Herpes simplex virus encephalitis in human UNC-93B deficiency
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Casrouge, A.1
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Jouanguy E, Zhang SY, Chapgier A, et al. Human primary immunodeficiencies of type I interferons. Biochemie 2007; 89:878-883.
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Jouanguy E, Zhang SY, Chapgier A, et al. Human primary immunodeficiencies of type I interferons. Biochemie 2007; 89:878-883.
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Association between common Toll-like receptor 4 mutations and severe respiratory syncytial virus disease
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Tal G, Mandelberg A, Dalal I, et al. Association between common Toll-like receptor 4 mutations and severe respiratory syncytial virus disease. J Infect Dis 2004; 189:2057-2063.
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Tal, G.1
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12
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34250873851
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TLR4 polymorphisms mediate impaired responses to respiratory syncytial virus and lipopolysaccharide
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The study improves our understanding of how polymorphisms in TLRs lead to impaired immunity to the RSV virus and thus why some infants develop a more severe clinical course of RSV bronchiolitis
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Tulic MK, Hurrelbrink RJ, Prêle CM, et al. TLR4 polymorphisms mediate impaired responses to respiratory syncytial virus and lipopolysaccharide. J Immunol 2007; 179:132-140. The study improves our understanding of how polymorphisms in TLRs lead to impaired immunity to the RSV virus and thus why some infants develop a more severe clinical course of RSV bronchiolitis.
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J Immunol
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Tulic, M.K.1
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Immaturity of infection control in preterm and term newborns is associated with impaired toll-like receptor signaling
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Sadeghi K, Berger A, Langgartner M, et al. Immaturity of infection control in preterm and term newborns is associated with impaired toll-like receptor signaling. J Infect Dis 2007; 195:296-302.
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Sadeghi, K.1
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Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
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Minegishi, Y.1
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Human complete STAT-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo
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Chapgier A, Wynn RF, Jouanguy E, et al. Human complete STAT-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J Immunol 2006; 176:5078-5083.
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Chapgier, A.1
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16
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34548317417
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Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome
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Joint first description of the genetic cause of autosomal dominant hyper IgE syndrome. Forty years after this condition was initially described, we finally understand the molecular basis for this multisystem disease
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Minegishi Y, Saito S, Tsuchiya S, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007;448:1058-1063. Joint first description of the genetic cause of autosomal dominant hyper IgE syndrome. Forty years after this condition was initially described, we finally understand the molecular basis for this multisystem disease.
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Nature
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Minegishi, Y.1
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STAT3 mutations in the hyper-IgE syndrome
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Joint first description of the genetic cause of autosomal dominant hyper IgE syndrome
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Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med 2007; 357:1-12. Joint first description of the genetic cause of autosomal dominant hyper IgE syndrome.
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Holland, S.M.1
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STAT3 mutation in the original patient with Job's syndrome
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A fast procedure for the detection of defects in Toll-like receptor signalling
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IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
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Hirschfeld AF, Bettinger JA, Victor RE, et al. Prevalence of Toll-like receptor signalling defects in apparently healthy children who developed invasive pneumococcal infection. Clin Immunol 2007; 122:271-278. Fifty children with a history of invasive pneumococcal disease were screened for defects in TLR activity. No abnormalities were found. The authors suggest that routine clinical screening for TLR defects in otherwise healthy children who develop an invasive pneumococcal infection is probably not justified.
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22
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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
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Klein, C.1
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A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
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Inherited susceptibility to acute pyelonephritis: A family study of urinary tract infection
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This study provides evidence that defects in neutrophil chemotaxis to areas of infection because of abnormalities of the IL-8 chemokine receptor (CXCR1) is a significant cause of acute pyelonephritis in children and other affected family members
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Lundstedt AC, Leijonhufvud I, Ragnarsdottir B, et al. Inherited susceptibility to acute pyelonephritis: a family study of urinary tract infection. J Infect Dis 2007; 195:1227-1234. This study provides evidence that defects in neutrophil chemotaxis to areas of infection because of abnormalities of the IL-8 chemokine receptor (CXCR1) is a significant cause of acute pyelonephritis in children and other affected family members.
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