Page 1066 - Williams Hematology ( PDFDrive )
P. 1066
1040 Part VII: Neutrophils, Eosinophils, Basophils, and Mast Cells Chapter 66: Disorders of Neutrophil Function 1041
404. Dinauer MC, Pierce EA, Bruns GA, et al: Human neutrophil cytochrome b light chain 425. Gungor T, Teira P, Slatter M, et al: Reduced-intensity conditioning and HLA-matched
(p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-neg- haemopoietic stem-cell transplantation in patients with chronic granulomatous
ative autosomal recessive chronic granulomatous disease. J Clin Invest 86:1729, 1990. disease: A prospective multicentre study. Lancet 383:436, 2014.
405. Segal AW: Biochemistry and molecular biology of chronic granulomatous disease. J 426. Chusid MJ, Gelfand JA, Nutter C, et al: Letter: Pulmonary aspergillosis, inhalation
Inherit Metab Dis 15:683, 1992. of contaminated marijuana smoke, chronic granulomatous disease. Ann Intern Med
406. Casimir CM, Bu-Ghanim HN, Rodaway AR, et al: Autosomal recessive chronic granu- 82:682, 1975.
lomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci U S A 427. Seger RA: Modern management of chronic granulomatous disease. Br J Haematol
88:2753, 1991. 140:255, 2008.
407. Roos D: X-CGDbase: A database of X-CGD-causing mutations. Immunol Today 17:517, 428. Gallin JI, Alling DW, Malech HL, et al: Itraconazole to prevent fungal infections in
1996. chronic granulomatous disease. N Engl J Med 348:2416, 2003.
408. Matute JD, Arias AA, Wright NA, et al: A new genetic subgroup of chronic granuloma- 429. A controlled trial of interferon gamma to prevent infection in chronic granulomatous
tous disease with autosomal recessive mutations in p40 phox and selective defects in disease. The International Chronic Granulomatous Disease Cooperative Study Group.
neutrophil NADPH oxidase activity. Blood 114:3309, 2009. N Engl J Med 324:509, 1991.
409. Jankowski A, Scott CC, Grinstein S: Determinants of the phagosomal pH in neu- 430. Schiff DE, Rae J, Martin TR, et al: Increased phagocyte Fc gammaRI expression and
trophils. J Biol Chem 277:6059, 2002. improved Fc gamma-receptor-mediated phagocytosis after in vivo recombinant
410. Reeves EP, Lu H, Jacobs HL, et al: Killing activity of neutrophils is mediated through human interferon-gamma treatment of normal human subjects. Blood 90:3187,
activation of proteases by K+ flux. Nature 416:291, 2002. 1997.
411. Fernandez-Boyanapalli RF, Frasch SC, McPhillips K, et al: Impaired apoptotic cell 431. Woodman RC, Erickson RW, Rae J, et al: Prolonged recombinant interferon-gamma
clearance in CGD due to altered macrophage programming is reversed by phosphati- therapy in chronic granulomatous disease: Evidence against enhanced neutrophil oxi-
dylserine-dependent production of IL-4. Blood 113:2047, 2009. dase activity. Blood 79:1558, 1992.
412. Bianchi M, Hakkim A, Brinkmann V, et al: Restoration of NET formation by gene ther- 432. Kuhns DB, Alvord WG, Heller T, et al: Residual NADPH oxidase and survival in
apy in CGD controls aspergillosis. Blood 114:2619, 2009. chronic granulomatous disease. N Engl J Med 363:2600, 2010.
413. Johnston RB Jr, Baehner RL: Chronic granulomatous disease: Correlation between 433. Malech HL, Bauer TR Jr, Hickstein DD: Prospects for gene therapy of neutrophil
pathogenesis and clinical findings. Pediatrics 48:730, 1971. defects. Semin Hematol 34:355, 1997.
414. Johnston RB Jr: Clinical aspects of chronic granulomatous disease. Curr Opin Hematol 434. Pollock JD, Williams DA, Gifford MA, et al: Mouse model of X-linked chronic granu-
8:17, 2001. lomatous disease, an inherited defect in phagocyte superoxide production. Nat Genet
415. Petty HR, Francis JW, Boxer LA: Deficiency in immune complex uptake by chronic 9:202, 1995.
granulomatous disease neutrophils. J Cell Sci 90:425, 1988. 435. Jackson SH, Gallin JI, Holland SM: The p47phox mouse knock-out model of chronic
416. Foster CB, Lehrnbecher T, Mol F, et al: Host defense molecule polymorphisms influ- granulomatous disease. J Exp Med 182:751, 1995.
ence the risk for immune-mediated complications in chronic granulomatous disease. J 436. Mardiney M, III, Jackson SH, Spratt SK, et al: Enhanced host defense after gene trans-
Clin Invest 102:2146, 1998. fer in the murine p47phox-deficient model of chronic granulomatous disease. Blood
417. Wolach B, Scharf Y, Gavrieli R, et al: Unusual late presentation of X-linked chronic 89:2268, 1997.
granulomatous disease in an adult female with a somatic mosaic for a novel mutation 437. Bjorgvinsdottir H, Ding C, Pech N, et al: Retroviral-mediated gene transfer of gp91phox
in CYBB. Blood 105:61, 2005. into bone marrow cells rescues defect in host defense against Aspergillus fumigatus in
418. Crockard AD, Thompson JM, Boyd NA, et al: Diagnosis and carrier detection of murine X-linked chronic granulomatous disease. Blood 89:41, 1997.
chronic granulomatous disease in five families by flow cytometry. Int Arch Allergy 438. Malech HL, Maples PB, Whiting-Theobald N, et al: Prolonged production of NADPH
Immunol 114:144, 1997. oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease.
419. Newburger PE, Luscinskas FW, Ryan T, et al: Variant chronic granulomatous disease: Proc Natl Acad Sci U S A 94:12133, 1997.
Modulation of the neutrophil defect by severe infection. Blood 68:914, 1986. 439. Ott MG, Schmidt M, Schwarzwaelder K, et al: Correction of X-linked chronic granu-
420. Curnutte JT: Chronic granulomatous disease: The solving of a clinical riddle at the lomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1,
molecular level. Clin Immunol Immunopathol 67:S2, 1993. PRDM16 or SETBP1. Nat Med 12:401, 2006.
421. Cooper MR, DeChatelet LR, McCall CE, et al: Complete deficiency of leukocyte glu- 440. Hansson M, Olsson I, Nauseef WM: Biosynthesis, processing, and sorting of human
cose-6-phosphate dehydrogenase with defective bactericidal activity. J Clin Invest myeloperoxidase. Arch Biochem Biophys 445:214, 2006.
51:769, 1972. 441. Nauseef WM: Insights into myeloperoxidase biosynthesis from its inherited deficiency.
422. Vives Corrons JL, Feliu E, Pujades MA, et al: Severe-glucose-6-phosphate dehydroge- J Mol Med (Berl) 76:661, 1998.
nase (G6PD) deficiency associated with chronic hemolytic anemia, granulocyte dys- 442. Nauseef WM: Myeloperoxidase deficiency. Hematol Pathol 4:165, 1990.
function, and increased susceptibility to infections: Description of a new molecular 443. Boxer LA: The role of antioxidants in modulating neutrophil functional responses. Adv
variant (G6PD Barcelona). Blood 59:428, 1982. Exp Med Biol 262:19, 1990.
423. Ambruso DR, Knall C, Abell AN, et al: Human neutrophil immunodeficiency syndrome 444. Roos D, Weening RS, Voetman AA, et al: Protection of phagocytic leukocytes by
is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci U S A 97:4654, 2000. endogenous glutathione: Studies in a family with glutathione reductase deficiency.
424. Williams DA, Tao W, Yang F, et al: Dominant negative mutation of the hematopoietic- Blood 53:851, 1979.
specific Rho GTPase, Rac2, is associated with a human phagocyte immunodeficiency. 445. Boxer LA, Oliver JM, Spielberg SP, et al: Protection of granulocytes by vitamin E in
Blood 96:1646, 2000. glutathione synthetase deficiency. N Engl J Med 301:901, 1979.
Kaushansky_chapter 66_p1005-1042.indd 1041 9/21/15 10:48 AM

