Page 543 - Clinical Immunology_ Principles and Practice ( PDFDrive )
P. 543

522          ParT fOur  Immunological Deficiencies


        22.  Bustamante J, et al. Germline CYBB mutations that selectively affect   38.  Chapgier A, et al. Human complete Stat-1 deficiency is associated with
           macrophages in kindreds with X-linked predisposition to tuberculous   defective type I and II IFN responses in vitro but immunity to some low
           mycobacterial disease. Nat Immunol 2011;12:213–21.     virulence viruses in vivo. J Immunol 2006;176:5078–83.
        23.  Hambleton S, et al. IRF8 Mutations and human dendritic-cell   39.  Kawai T, Akira S. The role of pattern-recognition receptors in innate
           immunodeficiency. N Engl J Med 2011;365:127–38.        immunity: update on Toll-like receptors. Nat Immunol 2010;11:373–84.
        24.  Boisson-Dupuis S, et al. Inborn errors of human STAT1: allelic   40.  Zhang SY, Casanova JL. Inborn errors underlying herpes simplex
           heterogeneity governs the diversity of immunological and infectious   encephalitis: from TLR3 to IRF3. J Exp Med 2015;212:1342–3.
           phenotypes. Curr Opin Immunol 2012;24:364–78.       41.  Boisson B, et al. Immunodeficiency, autoinflammation and
        25.  Dorman SE, et al. Clinical features of dominant and recessive interferon   amylopectinosis in humans with inherited HOIL-1 and LUBAC
           gamma receptor 1 deficiencies. Lancet 2004;364:2113–21.  deficiency. Nat Immunol 2012;13:1178–86.
        26.  Olbrich P, et al. Diagnostic and therapeutic challenges in a child with   42.  Boisson B, et al. Human HOIP and LUBAC deficiency underlies
           complete interferon-gamma receptor 1 deficiency. Pediatr Blood Cancer   autoinflammation, immunodeficiency, amylopectinosis, and
           2015;62:2036–9.                                        lymphangiectasia. J Exp Med 2015;212:939–51.
        27.  Sologuren I, et al. Partial recessive IFN-(R1 deficiency: genetic,   43.  Paciolla M, et al. Rare mendelian primary immunodeficiency diseases
           immunological and clinical features of 14 patients from 11 kindreds.   associated with impaired NF-kappaB signaling. Genes Immun
           Hum Mol Genet 2011;20:1509–23.                         2015;16:239–46.
        28.  Moncada-Velez M, et al. Partial IFN-gammaR2 deficiency is due to   44.  Hanson EP, et al. Hypomorphic nuclear factor-kappaB essential
           protein misfolding and can be rescued by inhibitors of glycosylation.   modulator mutation database and reconstitution system identifies
           Blood 2013;122:2390–401.                               phenotypic and immunologic diversity. J Allergy Clin Immunol
        29.  Kong XF, et al. Haploinsufficiency at the human IFNGR2 locus   2008;122:1169–77, e16.
           contributes to mycobacterial disease. Hum Mol Genet 2013;22:769–81.  45.  Dupuis-Girod S, et al. Successful allogeneic hemopoietic stem cell
        30.  de Beaucoudrey L, et al. Revisiting human IL-12Rbeta1 deficiency: a   transplantation in a child who had anhidrotic ectodermal dysplasia with
           survey of 141 patients from 30 countries. Medicine (Baltimore)   immunodeficiency. Pediatrics 2006;118:e205–11.
           2010;89:381–402.                                    46.  Giancane G, et al. Anhidrotic ectodermal dysplasia: a new mutation. J
        31.  de Beaucoudrey L, et al. Mutations in STAT3 and IL12RB1 impair the   Allergy Clin Immunol 2013;132:1451–3.
           development of human IL-17-producing T cells. J Exp Med   47.  Ku CL, et al. Selective predisposition to bacterial infections in IRAK-4-
           2008;205:1543–50.                                      deficient children: IRAK-4-dependent TLRs are otherwise redundant in
        32.  Ouederni M, et al. Clinical features of Candidiasis in patients with   protective immunity. J Exp Med 2007;204:2407–22.
           inherited interleukin 12 receptor beta1 deficiency. Clin Infect Dis   48.  Puel A, et al. Inborn errors of mucocutaneous immunity to Candida
           2014;58:204–13.                                        albicans in humans: a role for IL-17 cytokines? Curr Opin Immunol
        33.  Prando C, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and   2010;22:467–74.
           clinical features of 49 patients from 30 kindreds. Medicine (Baltimore)   49.  Lanternier F, et al. Inherited CARD9 deficiency in otherwise healthy
           2013;92:109–22.                                        children and adults with Candida species-induced meningoencephalitis,
        34.  Bogunovic D, et al. Mycobacterial disease and impaired IFN-gamma   colitis, or both. J Allergy Clin Immunol 2015;135:1558–68, e2.
           immunity in humans with inherited ISG15 deficiency. Science   50.  Puel A, et al. Autoantibodies against IL-17A, IL-17F, and IL-22 in patients
           2012;337:1684–8.                                       with chronic mucocutaneous candidiasis and autoimmune polyendocrine
        35.  Zhang X, et al. Human intracellular ISG15 prevents interferon-alpha/beta   syndrome type I. J Exp Med 2010;207:291–7.
           over-amplification and auto-inflammation. Nature 2015;517:89–93.  51.  Okada S, et al. Immunodeficiencies. Impairment of immunity to Candida
        36.  Minegishi Y, et al. Human tyrosine kinase 2 deficiency reveals its requisite   and Mycobacterium in humans with bi-allelic RORC mutations. Science
           roles in multiple cytokine signals involved in innate and acquired   2015;349:606–13.
           immunity. Immunity 2006;25:745–55.                  52.  Casanova JL. Severe infectious diseases of childhood as monogenic
        37.  Filipe-Santos O, et al. X-linked susceptibility to mycobacteria is caused by   inborn errors of immunity. Proc Natl Acad Sci USA 2015;112:E7128–37.
           mutations in NEMO impairing CD40-dependent IL-12 production. J Exp   53.  Casanova JL. Human genetic basis of interindividual variability in the
           Med 2006;203:1745–59.                                  course of infection. Proc Natl Acad Sci USA 2015;112:E7118–27.
   538   539   540   541   542   543   544   545   546   547   548