Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease

Blood

Volumn 87, Issue 5, 1996, Pages 1663-1681

  Roos, Dirk ^a   De Boer, Martin ^b   Kuribayashi, Futoshi ^b   Meischl, Christof ^b   Weening, Ron S ^b   Segal, Anthony W ^b   Åhlin, Anders ^b   Nemet, Katalin ^b   Hossle, Johann Peter ^b   Bernatowska Matuszkiewicz, Ewa ^b   Middleton Price, Helen ^b  

^a CENTRAL LABORATORY   (Netherlands)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; COMPLEMENTARY DNA; FLAVINE ADENINE NUCLEOTIDE; PLACEBO; RECOMBINANT GAMMA INTERFERON; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; SUPEROXIDE;

ASPERGILLOSIS; AUTOSOMAL RECESSIVE DISORDER; CHRONIC GRANULOMATOUS DISEASE; CLINICAL TRIAL; GENE DELETION; GENE INSERTION; GENE THERAPY; GENETIC HETEROGENEITY; HUMAN; MISSENSE MUTATION; MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; REGISTER; REVIEW; X CHROMOSOME LINKED DISORDER;

EID: 13344293679     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v87.5.1663.bloodjournal8751663     Document Type: Review

References (153)

1. Forrest CB, Forehand JR. Axtell RA. Roberts RL, Johnston RB: Clinical features and current management of chronic granulomatous disease. Hematol Oncol Clin North Am 2:253, 1988
2. Quie PG, White JG, Holmes, PG, Good RA: In vitro bactericidal capacity of human polymorphonuclear leucocytes: Diminished actvity in chronic granulomatous disease of childhood. J Clin Invest 46:668, 1967
3. -245 subunits from neutrophils in X-linked chronic granulomatous disease. Nature 326:88, 1987
4. Parkos CA, Allen, RA, Chochrane CG, Jesaitis AJ: Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest 80:732, 1987
5. Cross AR, Jones OTG, Harper AM, Segal AW: Oxidation-reduction properties of the cytochrome b found in the plasma membrane fraction of human neutrophils: A possible oxidase in the respiratory burst. Biochem J 194:599, 1981
6. 558 in human blood phagocytes by immunoelectron microscopy. Blood 76:2105, 1990
7. Kuijpers, TW, Tool ATJ, Van der Schoot CE, Roos D, Verhoeven AJ: Membrane surface antigen expression in neutrophils: A reappraisal of the use of surface markers for neutrophil activation. Blood 78:1105, 1991
8. 558 and the adhesion molecule CD11b/CD18. Blood 81:3122, 1993
9. 2 oxidoreductase in human neutrophils after stimulation with phorbol-myristate acetate. J Biol Chem 265:924, 1990 (Correction: J Biol Chem 265:19370, 1990)
10. Clark RA, Volpp BD, Leidal KG, Nauseef WM: Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J Clin Invest 85:714, 1990
11. Segal AW, Jones OT: Subcellular distribution and some properties of the cytochrome b component of the microbicidal oxidase system of human neutrophils. Biochem J 182:181, 1979
12. -245 is a flavocytochrome containing FAD and the NADPH binding site of the microbicidal oxidase of phagocytes. Biochem J 284:781, 1992
13. 558. J Biol Chem 266:1627, 1991
14. Quinn MT, Mullen JL, Jesaitis AJ: A human neutrophil cytochrome b contains multiple hemes. Evidence for heme associated with both subunits. J Biol Chem 267:7303, 1992
15. 558 biosynthesis. Biochem J (in press)
16. -245 of the neutrophil superoxide-generating system contains two nonidentical hemes. J Biol Chem 270:17075, 1995
17. 558: The flavin-binding component of the phagocyte NADPH oxidase. Science 256:1459, 1992
18. 558, a component of the phagocyte NADPH oxidase, is a flavoprotein. Biochem Biophys Res Commun 186:1368, 1992
19. Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SH: Primary structure and unique expression of the 22 kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci USA 85:3319, 1988
20. Dinauer MC, Pierce EA, Bruns GAP, Curnutte JT, Orkin SH: Human neutrophil cytocrome-b light chain (p22-phox): Gene structure, chromosomal location, and mutations in cytochrome negative autosomal recessive chronic granulomatous disease. J Clin Invest 86:1729, 1990
21. Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH: Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 322:32, 1986
22. Dinauer MC, Orkin SH, Brown R, Jesaitis AJ, Parkos CA: The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. Nature 327:717, 1987
23. -245. Nature 327:720, 1987
24. Parkos CA, Dinauer MC, Walker LE, Allen RA, Jesaitis AJ, Orkin SA: Primary structure and unique expression of the 22 kilodalton light chain of human neutrophil cytochrome b. Proc Natl Acad Sci USA 85:3319, 1988
25. Verhoeven AJ, Van Schaik MLJ, Roos D, Weening RS: Detection of earners of the autosomal form of chronic granulomatous disease. Blood 71:505, 1988
26. Porter CD, Parkar MH, Verhoeven AJ, Levinsky RJ, Collins, MKL, Kinnon C: p22-phox-deficient chronic granulomatous disease: reconstitution by retrovirus-mediated expression and identification of a biosynthetic intermediate of gp91-phox. Blood 84:2767, 1994
27. Segal AW, Heyworth PG, Cockcroft S, Barrowman MM: Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. Nature 316:547, 1985
28. Volpp BD, Nauseef WM, Clark RA: Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science 242:1295, 1988
29. Clark RA, Malech HL, Gallin JL, Nunoi H, Volpp BD, Pearson DW, Nauseef WM, Curnutte JT: Genetic variants of chronic granulomatous disease: Prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N Engl J Med 321:647, 1989
30. Volpp BD, Nauseef WM, Donelson JE, Moser DR, Clark RA: Cloning of the cDNA and functional expression of the 47-kilodalton cytosolic component of human neutrophil respiratory burst oxidase. Proc Natl Acad Sci USA 86:7195, 1989 (Erratum: Proc Natl Acad Sci USA 86:9563, 1989)
31. Lomax KR, Leto TL, Nunoi H, Galin JI, Malech HL: Recombinant 47-kilodalton cytosol factor restores NADPH oxidase in chronic granulomatous disease. Science 245:409, 1989 (Erratum: Science 246:987, 1989)
32. c-src. Science 248:727, 1990
33. Francke U, Hsieh C-L, Foellmer BE, Lomax KJ, Malech HL, Leto TL: Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am J Hum Genet 47:483, 1990
34. Ren R, Mayer BJ, Cicchetti P, Baltimore D: Identification of a ten-amino acid proline-rich SH3 binding site. Science 259:1157, 1993
35. Finan P, Shimizu Y, Gout I, Hsuan J, Truong O, Butcher C, Bennet P, Waterfield MD, Kellie S. An SH3 domain and proline-rich sequence mediate an interaction between two components of the phagocyte NADPH oxidase complex. J Biol Chem 269:13752, 1994
36. De Mendez I, Garrett MC, Adams AG, Leto TL: Role of p67-phox SH3 domains in assembly of the NADPH oxidase system. J Biol Chem 269:16326, 1994
37. Fuchs A, Dagher M-C, Vignais PV: Mapping the domains of interaction of p40-phox with both p47-phox and p67-phox of the neutrophil oxidase complex using the two-hybrid system. J Biol Chem 270:5695, 1995
38. Leusen JHW, Fluiter K, Hilarius PM, Roos D, Verhoeven AJ, Bolscher BGJM: Interactions between the cytosolic components p47-phox and p67-phox of the human neutrophil NADPH oxidase that are not required for activation in the cell-free system. J Biol Chem 270:11216, 1995
39. Wientjes FB, Hsuan JJ, Totty NF, Segal AW: p40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. Biochem J 296:557, 1993
40. phox. Biochem Biophys Res Commun 199:1378, 1994
41. -245. J Biol Chem 267:16767, 1992
42. 558: The flavin-binding component of the phagocyte NADPH oxidase. Science 256:1459, 1992
43. De Mendez I, Leto TL: Functional reconstitution of the phagocyte NADPH oxidase by transfection of its multiple components in a heterologous system. Blood 85:1104, 1995
44. Nunoi H, Rotrosen D, Gallin JI, Malech HL: Two forms of autosomal chronic granulomatous disease lack distinct neutrophil cytosol factors. Science 242:1298, 1988
45. 2 oxidoreductase activity in human neutrophils. J Clin Invest 83:757, 1989
46. Abo A, Pick E, Hall A, Totty N, Teahan CG, Segal AW: Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1. Nature 353:668, 1991
47. Knaus UG, Heyworth PG, Evans T, Curnutte JG, Bokoch GM: Regulation of phagocyte oxygen radical production by the GTP-binding protein Rac 2. Science 254:1512, 1991
48. Mizuno T, Kaibuchi K, Ando S, Musha T, Hiraoka K, Takaishi K, Asada M, Nunoi H, Matsuda I, Takai Y: Regulation of the superoxide-generating NADPH oxidase by a small GTP-binding protein and its stimulatory and inhibitory GDP/GTP exchange proteins. J Biol Chem 267:10215, 1992
49. Kwong CH, Malech HL, Rotrosen D, Leto TL: Regulation of human neutrophil NADPH oxidase by rho-related G-proteins. Biochemistry 32:5711, 1993
50. Dusi S, Donini M, Rossi F: Mechanism of NADPH oxidase activation in human neutrophils: p67-phox is required for the translocation of rac-1 but not of rac-2 from cytosol to the membranes. Biochem J 308:991, 1995
51. Diekmann D, Abo A, Johnston C, Segal AW, Hall A: Interaction of Rac with p67-phox and regulation of phagocytic NADPH oxidase activity. Science 267:531, 1994
52. Quinn MT, Evans T, Loetterle LR, Jesaitis AJ, Bokoch GM: Translocation of Rac correlates with NADPH oxidase activation. Evidence for equimolar translocation of oxidase componenents. J Biol Chem 268:20983, 1993
53. Heyworth PG, Bohl BP, Bokoch GM, Curnutte JT: Rac translocates independently of the neutrophil oxidase components p47-phox and p61-phox. J Biol Chem 269:30749, 1994
54. El Benna J, Rudei JM, Babior BM: Cytosolic guanine nucleotide-binding protein Rac2 operates in vivo as a component of the neutrophil respiratory burst oxidase. Transfer of Rac2 and the cytosolic oxidase components p47-phox and p67-phox to the submembranous actin cytoskeleton during oxidase activation. J Biol Chem 269:6729, 1994
55. Clark RA, Volpp BD, Leidal KG, Nauseef WM: Two cytosolic components of the human neutrophil respiratory burst oxidase translocate to the plasma membrane during cell activation. J Clin Invest 85:714, 1990
56. 558. J Clin Invest 87:352, 1991
57. Sumimoto H, Kage Y, Nunoi H, Sasaki H, Nose T, Fukumaki Y, Ohno M, Minakami S, Takeshige K: Role of src homology 3 domains in assembly and activation of the phagocyte NADPH oxidase. Proc Natl Acad Sci USA 91:5345, 1994
58. Leto TL, Adams AG, De Mendez I: Assembly of the phagocyte NADPH oxidase: binding of src homology 3 domains to proline-rich targets. Proc Natl Acad Sci USA 91:10650, 1994
59. 558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox. J Exp Med 180:2329, 1994
60. Okamura N, Curnutte, JT, Roberts RL, Babior BM: Relationship of protein phosphorylation to the activation of the respiratory burst in human neutrophils. Defects in the phosphorylation of a group of closely related 48-kDa proteins in two forms of chronic granulomatous disease J Biol Chem 263:6777, 1988
61. Dusi S, Rossi F: Activation of NADPH oxidase of human neutrophils involves the phosphorylation and the translocation of cytosolic p67-phox. Biochem J 296:367, 1993
62. -245 β-chain. Protein Science 2:1675, 1993
63. Cross AR, Yarchover JL, Curnutte JT: The superoxide-generating system of human neutrophils possesses a novel diaphorase activity. Evidence for distinct regulation of electron flow within NADPH oxidase by p67-phox and p47-phox. J Biol Chem 269:21448, 1994.
64. phox have distinct roles in the regulation of electron flow in NADPH oxidase. J Biol Chem 270:6543, 1995
65. 559. Blood 79:1563, 1992
66. 558 of NADPH oxidase by phosphorylation of Rap1A. Science 254:1794, 1991
67. Maly F-E, Quilliam LA, Dorseuil O, Der CJ, Bokoch GM: Activated or dominant inhibitory mutants of Rap1A decrease the oxidative burst of Epstein-Barr virus-transformed human B lymphocytes. J Biol Chem 269:18743, 1994
68. Gabig TG, Crean CD, Mantel PL, Rosli R: Function of wildtype or mutant Rac2 and Rap1A GTPases in differentiated HL60 cell NADPH oxidase activation. Blood 85:804, 1995
69. 558-negative form of the disease. J Leukoc Biol 51:164, 1992
70. Kousseff, B: Linkage between chronic granulomatous disease and Duchenne's muscular dystrophy. Am J Dis Child 135:1149, 1981
71. Francke U, Ochs HD, De Martinville B, Giacalone J, Lindgren V, Disteche C, Pagon RA, Hofker MH, Van Ommen G-JB, Pearson PL, Wedgwood RJ: Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37:250, 1985
72. k gene locus. Blood 71:252, 1988
73. De Saint-Basile G, Bohler MC, Fischer A, Cartron J, Dufier JL, Griscelli C, Orkin SH: Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet 80:85, 1988
74. Roos D: The genetic basis of chronic granulomatous disease. Immunol Rev 138:121, 1994
75. Cooper DN, Krawczak M: Mechanisms of insertional mutagenesis in human genes causing genetic disease. Hum Genet 87:409, 1991
76. Rabbani H, De Boer M, Åhlin A, Sundin U, Elinder G, Hammarström L, Palmblad J, Smith CIE, Roos D: A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease. Eur J Haematol 51:218, 1993
77. Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, Nunoi H, Okuno A: A new mutation in exon 12 of the gp91-phox gene leading to cytochrome-b-positive X-linked chronic granulomatous disease. Blood 85:3274, 1995
78. Azuma H, Oomi H, Ueda HOD, Sasaki K, Makita Y, Tomizawa K, Sakiyama Y, Fujita K, Yoshioka H, Okuno A. cytochrome b positive X-linked chronic granulomatous disease: a normal cell surface expression of cytochrome b. Eur J Pediatr 151:279, 1992
79. Kunkel TA: Frameshift mutagenesis by eukaryotic DNA polymerases in vitro. J Biol Chem 261:13581, 1986
80. Krawczak M, Cooper DN: Gene deletions causing human genetic disease: Mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum Genet 86:425, 1991
81. Krawczak M, Reiss J, Cooper DN: The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences. Hum Genet 90:41, 1992
82. De Boer M, Bolscher BGJM, Dinauer MC, Orkin SH, Smith CIE, Ahlin Å, Weening RS, Roos D: Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80:1553, 1992
83. Schapiro BL, Newburger PE, Klempner MS, Dinauer MC: Chronic granulomatous disease presenting in a 69-year-old man. N Engl J Med 325:1786, 1991
84. Kuribayashi F, de Boer M, Leusen JHW, Verhoeven A, Roos D: A novel polymorphism in the coding region of CYBB, the human gp91-phox gene. Hum Genet (in press)
85. Cooper DN, Krawczak M: The mutational spectrum of single base-pair substitutions causing human genetic disease: Patterns and predictions. Hum Genet 85:55, 1990
86. Cooper DN: Human gene mutations affecting RNA processing and translation. Ann Med 25:11, 1993
87. 57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. Eur J Pediatr 152:469, 1993
88. 558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. J Clin Invest 93:2120, 1994
89. -) with partially functional cytochrome b. J Biol Chem 270:8194, 1995
90. Woodman RC, Newburger PE, Anklesaria P, Erickson RW, Rae J, Cohen MS, Curnutte JT: A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells. Blood 85:231, 1995
91. 558. J Clin Invest 94:1205, 1994
92. Skalnik DG, Strauss EC, Orkin SH: CCAAT displacement protein as a repressor of the myelomonocytic-specific gp91-phox gene promoter. J Biol Chem 266:16736, 1991
93. 558. Biochem Biophys Res Commun 209:146, 1995
94. Dinauer MC, Pierce EA, Erickson RW, Mühlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT: Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc Natl Acad Sci USA 88:11231, 1991
95. 558 light chain of the NADPH oxidase (p22-phox). Am J Hum Genet 51:1127, 1992
96. Chanock SJ, Barrett DM, Curnutte JC, Orkin SH: Gene structure of the cytolosic component, phox-47 and mutations in autosomal recessive chronic granulomatous disease. Blood 78:165a, 1991 (abstr, suppl 1)
97. Casimir CM, Bu-Ghanim HN, Rodaway ARF, Bentley DL, Rows P, Segal AW: Autsomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci USA 88:2753, 1991
98. Volpp D, Lin Y: In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. J Clin Invest 91:201, 1993
99. Iwata M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, Ohmi S, Kanegasaki S, Matsuda I: Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. Biochem Biophys Res Commun 3:1372, 1994
100. Chanock SJ, El Benna J, Smith RM, Babior BM: The respiratory burst oxidase. J Biol Chem 269:24519, 1994
101. Kenney RT, Malech HL, Epstein ND, Roberts RL, Leto TL: Characterization of the p67-phox gene: Genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease Blood 82:3739, 1993
102. De Boer M, Hilarius-Stokman PM, Hossle J-P, Verhoeven AJ, Graf N, Kenney RT, Seger R, Roos D Autosomal recessive chronic granulomatous disease with absence of the 67-kDa cytosolic NADPH oxidase component: Identification of mutation and detection of carriers. Blood 83:531, 1994
103. Cohen Tanugi-Cholley L, Issartel J-P, Lunardi J, Freycon F, Morel F, Vignais PV: A mutation located in the 5′ splice junction sequence of intron 3 in the p67-phox gene causes the lack of p67-phox mRNA in a patient with chronic granulomatous disease. Blood 85:242, 1995
104. Nunoi H, Iwata M, Tatsuzawa S, Onoe Y, Shimizu S, Kanegasaki S, Matsuda I: AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein Blood 86:329, 1995
105. Weening RS, Adriaansz LH, Weemaes CMR, Lutter R, Roos D: Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils. J Pediatr 107:102, 1985
106. Margolis DM, Melnick DA, Alling DW, Gallin JI: Trimethoprim-sulfamethoxazole in the management of chronic granulomatous disease. J Infect Dis 162:723, 1990
107. International Chronic Granulomatous Disease Cooperative Study Group: A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. N Eng J Med 324:509, 1991
108. Bemiller LS, Rost JR, Ku-Balai TL, Curnutte JT: The production of intracellular oxidants by stimulated neutrophils correlates with the clinical severity of chronic granulomatous disease. Blood 78:377a, 1991 (abstr, suppl 1)
109. Roos D, Weening RS, De Boer M, Meerhof LJ: Heterogeneity in chronic granulomatous disease, in Vossen J, Griscelli C (eds): Progress in Immunodeficiency Research and Therapy II. Amsterdam, The Netherlands, Elsevier, 1986, p 139
110. Meerhof LJ, Roos D: Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J Leukoc Biol 39:699, 1986
111. Roesler J, Hecht M, Freihorst J, Lohmann-Matthes M-L, Emmendörffer A: Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry. Eur J Pediatr 150:161, 1991
112. Verhoeven AJ, Van Schaik MLJ, Roos D, Weening RS: Detection of carriers of the autosomal form of chronic granulomatous disease. Blood 71:505, 1988
113. Newburger PE, Cohen HJ, Rothchild SB, Hobbins JC, Malawista SE, Mahoney MJ: Prenatal diagnosis of chronic granulomatous disease. N Engl J Med 300:178, 1979
114. Battat L, Francke U: Nsi I RFLP at the X-linked chronic granulomatous disease locus (CYBB). Nucleic Acids Res 17:3619, 1989
115. Pelham A, O'Reilly M-A, Malcolm S, Levinsky RJ, Kinnon C: RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier dertermination. Blood 76:820, 1990
116. Mühlebach TJ, Robinson W, Seger RA, Mächler M: A second NsiI RFLP at the CYBB locus. Nucleic Acids Res 18:4966, 1990
117. n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: Utility for prenatal diagnosis. Blood 78:433a, 1991 (abstr, suppl 1)
118. Hardwick LJ, Brown J, Wright AF: An STR polymorphism at the CYBB locus. Hum Mol Gen 2:1755, 1993
119. De Boer M, Bolscher BGJM, Sijmons RH, Scheffer H, Weening RS, Roos D: Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. Prenat Diag 12:773, 1992
120. Weening RS, Kabel P, Pijman P, Roos D: Continuous therapy with sulfamethoxazole- trimethoprim in patients with chronic granulomatous disease. J Pediatr 103:127, 1983
121. Gallin JI, Buescher ES, Seligmann BE, Nath J, Gaither T, Katz P: Recent advances in chronic granulomatous disease. Ann Intern Med 99:657, 1983
122. Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C: Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114:555, 1989
123. Mouy R, Veber F, Blanche S, Donadieu J, Brauner R, Levron JC, Griscelli C, Fischer A: Long-term itraconazole prophylaxis against Aspergillus infections in thirty-two patients with granulomatous disease. J Pediatr 125:998, 1994
124. Lekstrom-Himes JA, Holland SM, DeCarlo ES, Miller J, Leitman SF, Chang R, Baker AR, Gallin JI: Treatment with intralesional granulocyte instillations and interferon-gamma for a patient with chronic granulomatous disease and multiple hepatic abscesses. Clin Infect Dis 19:770, 1994
125. Rappeport JM, Newburger PE, Goldblum RM, Golman AS, Nathan DG, Parkman R: Allogeneic bone marrow transplantation for chronic granulomatous disease. J Pediatr 101:952, 1982
126. Kamani N, August CS, Campbell DE, Hassan NF, Douglas SD: Marrow transplantation in chronic granulomatous disease: An update, with 6-year follow-up J Pediatr 113:697, 1988
127. Weening RS, Leitz, GJ, Seger RA: Recombinant human interferon-gamma in patients with chronic granulomatous disease-European follow-up study. Eur J Pediatr 154:295, 1995
128. Fischer A, Segal AW, Seger RA, Weening RS: The management of chronic granulomatous disease. Eur J Pediatr 152:896, 1993
129. 2 production by B lymphocytes lacking the respiratory burst oxidase subunit p47-phox after transfection with an expression vector containing a p47-phox cDNA. Proc Natl Acad Sci USA 89:10174, 1992
130. Cobbs CS, Malech HL, Leto TL, Freeman SM, Blaese RM, Gallin JI, Lomax KJ: Retroviral expression of recombinant p47phox protein by Epstein-Barr virus-transformed B lymphocytes from a patient with autosomal chronic granulomatous disease. Blood 79:1829, 1992
131. Thrasher A, Chetty M, Casimir C, Segal AW: Restoration of superoxide generation to a chronic granulomatous disease-derived B-cell line by retrovirus mediated gene transfer. Blood 80:1125, 1992
132. Porter CD, Parkar MH, Levinsky RJ, Collins MKL, Kinnon C: X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox. Blood 82:2196, 1993
133. Maly FE, Schuerer-Maly CC, Quilliam L, Cochrane CG, Newburger PE, Curnutte JT, Gifford M, Dinauer MC: Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease (A22° CGD)-derived B lymphocyte cell lines by transfection with p22-phox cDNA. J Exp Med 178:2047, 1993
134. 558 defective forms of chronic granulomatous disease. Blood 84:53, 1994
135. Zhen L, King AAJ, Xiao Y, Chanock SJ, Orkin SH, Dinauer MC. Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell line and rescue by expression of recombinant gp91-phox. Proc Natl Acad Sci USA 90:9832, 1993
136. Sekhsaria S, Gallin JI, Linton GF, Mallory RM, Mulligan RC, Malech HL: Peripheral blood progenitors as a target for genetic correction of p47-phox-deficient chronic granulomatous disease. Proc Natl Acad Sci USA 90:7446, 1993
137. Skalnik DG, Dorfman DM, Perkins AS, Jenkins NA, Copeland NG, Orkin SH: Targeting of transgene expression to monocyte/ macrophages by the gp91-phox promoter and consequent histiocytic malignancies. Proc Natl Acad Sci USA 88:8505, 1991
138. Skalnik DG, Neufeld EJ Sequence-specific binding of HMG-I(Y) to the proximal promoter of the gp91-phox gene. Biochem Biophys Res Commun 187:563, 1992
139. Lee YS, Lien L, Orkin SH: Regulated expression of the human myeloid-specific gp91-phox gene following yeast artificial chromosome (YAC) transfer into mouse embryonic stem (ES) cells. Blood 82:1267a, 1993 (abstr, suppl 1)
140. Pollock JD, Williams DA, Gifford MAC, Li LL, Du X, Fisherman J, Orkin SH, Doerschuk CM, Dinauer MC: Mouse model of X-linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production. Nature Genet 9:202, 1995
141. Jackson SH, Gallin JI, Holland SM: The p47-phox mouse knock-out model of chronic granulomatous disease. J Exp Med 182:851, 1995
142. 558 in neutrophil membrane analyzed by anti-peptide antibodies and proteolysis. J Biol Chem 267:180, 1992
143. Roos D: The molecular basis of chronic granulomatous disease, in Gupta S, Griscelli C (eds): New Concepts in Immunodeficiency Diseases. Chichester, UK, Wiley, 1993, p 311
144. Ariga T, Sakiyama Y, Matsumoto, S: Molecular genetic studies of two families with X-linked chronic granulomatous disease: Mutation analysis and definitive determination of carrier status in patients' sisters. Eur J Haematol 52:99, 1994
145. Thrasher AJ, Keep NH, Wientjes F, Segal AW: Chronic granulomatous disease. Biochim Biophys Acta 1227:1, 1994
146. Gahr M: Unpublished results, January 1994
147. Curnutte JT: Chronic granulomatous disease: The solving of a clinical riddle at the molecular level. Clin Immunol Immunopathol 67:S2, 1993 (suppl)
148. Curnutte JT, Orkin SH, Dinauer MC: Genetic disorders of phagocyte function, in Stamatoyannopoulos G, Nienhuis AN, Majerus PA, Varmus H (eds): The Molecular Basis of Blood Diseases (ed 2). Philadelphia, PA, Saunders, 1994, p 493
149. 558 leading to X-linked chronic granulomatous disease. Blood 77:2482, 1991
150. 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease. Hum Genet 94:441, 1994
151. Dinauer MC, Curnutte JC, Rosen H, Orkin SA: A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest 84:2012, 1989
152. Hossle JP, De Boer M, Seger RA, Roos, D: Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis. Hum Genet 93:437, 1994
153. Porter CD, Parker MH, Kinnon C: Indentification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease. Hum Mutat (in press)