Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

Nature Immunology

Volumn 12, Issue 3, 2011, Pages 213-221

  Bustamante, Jacinta ^a,b   Arias, Andres A ^c   Vogt, Guillaume ^d   Picard, Capucine ^a,b,e   Galicia, Lizbeth Blancas ^a,b,f   Prando, Carolina ^d   Grant, Audrey V ^a,b   Marchal, Christophe C ^c   Hubeau, Marjorie ^a,b   Chapgier, Ariane ^a,b   De Beaucoudrey, Ludovic ^a,b   Puel, Anne ^a,b   Feinberg, Jacqueline ^a,b   Valinetz, Ethan ^c   Jannière, Lucile ^a,b   Besse, Céline ^g   Boland, Anne ^g   Brisseau, Jean Marie ^h   Blanche, Stéphane ^e   Lortholary, Olivier ^e   Fieschi, Claire ^a,b,i   Emile, Jean François ^j   Boisson Dupuis, Stéphanie ^a,b,d   Al Muhsen, Saleh ^k   Woda, Bruce ^l   Newburger, Peter E ^l   Condino Neto, Antonio ^m   Dinauer, Mary C ^c   Abel, Laurent ^a,b,d   Casanova, Jean Laurent ^a,b,d,e,k   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ROCKEFELLER UNIVERSITY   (United States)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^g CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^h Nantes Hospital   (France)

ⁱ SAINT LOUIS HOSPITAL   (France)

^j LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^k KING SAUD UNIVERSITY   (Saudi Arabia)

^l UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^m UNIVERSITY OF SÃO PAULO   (Brazil)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME; FLAVOCYTOCHROME B558; GLYCOPROTEIN GP 91; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; UNCLASSIFIED DRUG;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; B LYMPHOCYTE; CONTROLLED STUDY; CYBB GENE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ENZYME ACTIVITY; EPSTEIN BARR VIRUS; GENE; GENE MUTATION; HUMAN; MACROPHAGE; MALE; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE SYNDROME; NONHUMAN; PRIORITY JOURNAL; RESPIRATORY BURST; TUBERCULOSIS;

ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACROPHAGES; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; TUBERCULOSIS;

EID: 79951647077     PISSN: 15292908     EISSN: 15292916     Source Type: Journal    
DOI: 10.1038/ni.1992     Document Type: Article

References (50)

1. Casanova, J.L. & Abel, L. Genetic dissection of immunity to mycobacteria: the human model. Annu. Rev. Immunol. 20, 581-620 (2002). (Pubitemid 34293435)
2. Alcais, A., Fieschi, C., Abel, L. & Casanova, J.L. Tuberculosis in children and adults: two distinct genetic diseases. J. Exp. Med. 202, 1617-1621 (2005). (Pubitemid 41815866)
3. Filipe-Santos, O. et al. Inborn errors of IL-12/23-and IFN-γ-mediated immunity: molecular, cellular, and clinical features. Semin. Immunol. 18, 347-361 (2006). (Pubitemid 44540199)
4. Bustamante, J. et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J. Med. Genet. 44, e65 (2007).
5. Filipe-Santos, O. et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J. Exp. Med. 203, 1745-1759 (2006). (Pubitemid 44036280)
6. Notarangelo, L.D. et al. Primary immunodefciencies: 2009 update. J. Allergy Clin. Immunol. 124, 1161-1178 (2009).
7. Roos, D. et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol. Dis. 45, 246-265 (2010).
8. Mouy, R., Fischer, A., Vilmer, E., Seger, R. & Griscelli, C. Incidence, severity, and prevention of infections in chronic granulomatous disease. J. Pediatr. 114, 555-560 (1989). (Pubitemid 19098285)
9. Segal, B.H., Leto, T.L., Gallin, J.I., Malech, H.L. & Holland, S.M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79, 170-200 (2000). (Pubitemid 30327531)
10. Winkelstein, J.A. et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79, 155-169 (2000). (Pubitemid 30327530)
11. Bustamante, J. et al. BCG-osis and tuberculosis in a child with chronic granulomatous disease. J. Allergy Clin. Immunol. 120, 32-38 (2007). (Pubitemid 46990505)
12. Lee, P.P. et al. Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis. Pediatr. Infect. Dis. J. 27, 224-230 (2008)
13. Van den Berg, J.M. et al. Chronic granulomatous disease: the European experience. PLoS ONE 4, e5234 (2009).
14. 2 release from activated human leukocytes using a dihydroxyphenoxazine derivative. J. Immunol. Methods 202, 133-141 (1997). (Pubitemid 27128755)
15. Nakagawara, A., Nathan, C.F. & Cohn, Z.A. Hydrogen peroxide metabolism in human monocytes during differentiation in vitro. J. Clin. Invest. 68, 1243-1252 (1981). (Pubitemid 12235025)
16. Martinez, F.O., Gordon, S., Locati, M. & Mantovani, A. Transcriptional profling of the human monocyte-to-macrophage differentiation and polarization: new molecules and patterns of gene expression. J. Immunol. 177, 7303-7311 (2006). (Pubitemid 44715100)
17. Reichenbach, J. et al. Mycobacterial diseases in primary immunodefciencies. Curr. Opin. Allergy Clin. Immunol. 1, 503-511 (2001).
18. Conley, M.E. et al. Primary B cell immunodefciencies: comparisons and contrasts. Annu. Rev. Immunol. 27, 199-227 (2009).
19. Condino-Neto, A. & Newburger, P.E. NADPH oxidase activity and cytochrome b558 content of human Epstein-Barr-virus-transformed B lymphocytes correlate with expression of genes encoding components of the oxidase system. Arch. Biochem. Biophys. 360, 158-164 (1998). (Pubitemid 29001743)
20. Porter, C.D. et al. p22-phox-defcient chronic granulomatous disease: reconstitution by retrovirus-mediated expression and identifcation of a biosynthetic intermediate of gp91-phox. Blood 84, 2767-2775 (1994). (Pubitemid 24317411)
21. Maly, F.E. et al. Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease (A22(0) CGD)-derived B lymphocyte cell lines by transfection with p22phax cDNA. J. Exp. Med. 178, 2047-2053 (1993). (Pubitemid 23344861)
22. phox is synthesized as a 65-kDa precursor (p65) in the endoplasmic reticulum. J. Biol. Chem. 274, 4364-4369 (1999).
23. DeLeo, F.R. et al. Processing and maturation of favocytochrome b558 include incorporation of heme as a prerequisite for heterodimer assembly. J. Biol. Chem. 275, 13986-13993 (2000).
24. Yu, L., Zhen, L. & Dinauer, M.C. Biosynthesis of the phagocyte NADPH oxidase cytochrome b558. Role of heme incorporation and heterodimer formation in maturation and stability of gp91phox and p22phox subunits. J. Biol. Chem. 272, 27288-27294 (1997). (Pubitemid 27452692)
25. Nakamura, M., Murakami, M., Koga, T., Tanaka, Y. & Minakami, S. Monoclonal antibody 7D5 raised to cytochrome b558 of human neutrophils: immunocytochemical detection of the antigen in peripheral phagocytes of normal subjects, patients with chronic granulomatous disease, and their carrier mothers. Blood 69, 1404-1408 (1987). (Pubitemid 17085299)
26. phox. J. Biol. Chem. 276, 31105-31112 (2001).
27. Heyworth, P.G. et al. Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol. Dis. 27, 16-26 (2001). (Pubitemid 32299750)
28. Porter, C.D., Kuribayashi, F., Parkar, M.H., Roos, D. & Kinnon, C. Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis. Biochem. J. 315, 571-575 (1996).
29. Yamauchi, A. et al. Location of the epitope for 7D5, a monoclonal antibody raised against human favocytochrome b558, to the extracellular peptide portion of primate gp91phox. Microbiol. Immunol. 45, 249-257 (2001). (Pubitemid 32290682)
30. Burritt, J.B. et al. Phage display epitope mapping of human neutrophil favocytochrome b558. Identifcation of two juxtaposed extracellular domains. J. Biol. Chem. 276, 2053-2061 (2001). (Pubitemid 32109686)
31. Cassatella, M.A. et al. Molecular basis of interferon-γ and lipopolysaccharide enhancement of phagocyte respiratory burst capability. Studies on the gene expression of several NADPH oxidase components. J. Biol. Chem. 265, 20241-20246 (1990). (Pubitemid 120014001)
32. Ezekowitz, R.A., Dinauer, M.C., Jaffe, H.S., Orkin, S.H. & Newburger, P.E. Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon γ. N. Engl. J. Med. 319, 146-151 (1988).
33. Ding, C. et al. High-level reconstitution of respiratory burst activity in a human X-linked chronic granulomatous disease (X-CGD) cell line and correction of murine X-CGD bone marrow cells by retroviral-mediated gene transfer of human gp91phox. Blood 88, 1834-1840 (1996). (Pubitemid 26307081)
34. Ezekowitz, R.A. et al. Restoration of phagocyte function by interferon-γ in X-linked chronic granulomatous disease occurs at the level of a progenitor cell. Blood 76, 2443-2448 (1990).
35. Zhen, L. et al. Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91phox. Proc. Natl. Acad. Sci. USA 90, 9832-9836 (1993). (Pubitemid 23328204)
36. Casbon, A.J., Allen, L.A., Dunn, K.W. & Dinauer, M.C. Macrophage NADPH oxidase favocytochrome B localizes to the plasma membrane and Rab11-positive recycling endosomes. J. Immunol. 182, 2325-2339 (2009).
37. Zhu, Y. et al. Deletion mutagenesis of p22phox subunit of favocytochrome b558: identifcation of regions critical for gp91phox maturation and NADPH oxidase activity. J. Biol. Chem. 281, 30336-30346 (2006). (Pubitemid 44582087)
38. hox histidine 94. A histidine in this position is not required for favocytochrome b558 function. J. Biol. Chem. 277, 30368-30374 (2002).
39. Perkins, S.L., Link, D.C., Kling, S., Ley, T.J. & Teitelbaum, S.L. 1,25-Dihydroxyvitamin D3 induces monocytic differentiation of the PLB-985 leukemic line and promotes c-fgr mRNA expression. J. Leukoc. Biol. 50, 427-433 (1991).
40. Jitkaew, S., Witasp, E., Zhang, S., Kagan, V.E. & Fadeel, B. Induction of caspase-and reactive oxygen species-independent phosphatidylserine externalization in primary human neutrophils: role in macrophage recognition and engulfment. J. Leukoc. Biol. 85, 427-437 (2009).
41. Savina, A. et al. NOX2 controls phagosomal pH to regulate antigen processing during crosspresentation by dendritic cells. Cell 126, 205-218 (2006). (Pubitemid 44026552)
42. Adams, L.B., Dinauer, M.C., Morgenstern, D.E. & Krahenbuhl, J.L. Comparison of the roles of reactive oxygen and nitrogen intermediates in the host response to Mycobacterium tuberculosis using transgenic mice. Tuber. Lung Dis. 78, 237-246 (1997). (Pubitemid 28389093)
43. Segal, B.H. et al. The p47(phox-/-) mouse model of chronic granulomatous disease has normal granuloma formation and cytokine responses to Mycobacterium avium and Schistosoma mansoni eggs. Infect. Immun. 67, 1659-1665 (1999). (Pubitemid 29144379)
44. Nathan, C. & Shiloh, M.U. Reactive oxygen and nitrogen intermediates in the relationship between mammalian hosts and microbial pathogens. Proc. Natl. Acad. Sci. USA 97, 8841-8848 (2000). (Pubitemid 30626635)
45. MacMicking, J., Xie, Q.W. & Nathan, C. Nitric oxide and macrophage function. Annu. Rev. Immunol. 15, 323-350 (1997). (Pubitemid 27169284)
46. Casanova, J.L. & Abel, L. Primary immunodefciencies: a feld in its infancy. Science 317, 617-619 (2007). (Pubitemid 47229951)
47. Alcais, A., Abel, L. & Casanova, J.L. Human genetics of infectious diseases: between proof of principle and paradigm. J. Clin. Invest. 119, 2506-2514 (2009).
48. Gordon, S. & Taylor, P.R. Monocyte and macrophage heterogeneity. Nat Rev. Immunol. 5, 953-964 (2005). (Pubitemid 41746764)
49. Segal, A.W. How neutrophils kill microbes. Annu. Rev. Immunol. 23, 197-223 (2005). (Pubitemid 40563169)
50. Price, M.O. et al. Creation of a genetic system for analysis of the phagocyte respiratory burst: high-level reconstitution of the NADPH oxidase in a nonhematopoietic system. Blood 99, 2653-2661 (2002). (Pubitemid 34525349)