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.

