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1038 Part VII: Neutrophils, Eosinophils, Basophils, and Mast Cells Chapter 66: Disorders of Neutrophil Function 1039

264. Fuchs TA, Brill A, Duerschmied D, et al: Extracellular DNA traps promote thrombosis. 301. Ganz T, Metcalf JA, Gallin JI, et al: Microbicidal/cytotoxic proteins of neutrophils are
Proc Natl Acad Sci U S A 107:15880, 2010. deficient in two disorders: Chediak-Higashi syndrome and “specific” granule defi-
265. Yipp BG, Petri B, Salina D, et al: Infection-induced NETosis is a dynamic process ciency. J Clin Invest 82:552, 1988.
involving neutrophil multitasking in vivo. Nat Med 18:1386, 2012. 302. Lomax KJ, Gallin JI, Rotrosen D, et al: Selective defect in myeloid cell lactoferrin gene
266. Lekstrom-Himes JA, Gallin JI: Immunodeficiency diseases caused by defects in phago- expression in neutrophil specific granule deficiency. J Clin Invest 83:514, 1989.
cytes. N Engl J Med 343:1703, 2000. 303. Johnston JJ, Boxer LA, Berliner N: Correlation of messenger RNA levels with protein
267. Dinauer MC: Disorders of neutrophil function: An overview. Methods Mol Biol defects in specific granule deficiency. Blood 80:2088, 1992.
1124:501, 2014. 304. Rosenberg HF, Gallin JI: Neutrophil-specific granule deficiency includes eosinophils.
268. Dale DC, Boxer L, Liles WC: The phagocytes: Neutrophils and monocytes. Blood Blood 82:268, 1993.
112:935, 2008. 305. Gallin JI, Fletcher MP, Seligmann BE, et al: Human neutrophil-specific granule defi-
269. Mollnes TE, Jokiranta TS, Truedsson L, et al: Complement analysis in the 21st century. ciency: A model to assess the role of neutrophil-specific granules in the evolution of the
Mol Immunol 44:3838, 2007. inflammatory response. Blood 59:1317, 1982.
270. Botto M, Fong KY, So AK, et al: Molecular basis of hereditary C3 deficiency. J Clin 306. Lekstrom-Himes JA, Dorman SE, Kopar P, et al: Neutrophil-specific granule deficiency
Invest 86:1158, 1990. results from a novel mutation with loss of function of the transcription factor CCAAT/
271. Frank MM: Complement deficiencies. Pediatr Clin North Am 47:1339, 2000. enhancer binding protein epsilon. J Exp Med 189:1847, 1999.
272. Alper CA, Abramson N, Johnston RB Jr, et al: Studies in vivo and in vitro on an abnor- 307. Khanna-Gupta A, Sun H, Zibello T, et al: Growth factor independence-1 (Gfi-1) plays
mality in the metabolism of C3 in a patient with increased susceptibility to infection. J a role in mediating specific granule deficiency (SGD) in a patient lacking a gene-inacti-
Clin Invest 49:1975, 1970. vating mutation in the C/EBPepsilon gene. Blood 109:4181, 2007.
273. Densen P, Weiler JM, Griffiss JM, et al: Familial properdin deficiency and fatal menin- 308. Kuriyama K, Tomonaga M, Matsuo T, et al: Diagnostic significance of detecting pseu-
gococcemia. Correction of the bactericidal defect by vaccination. N Engl J Med 316:922, do-Pelger-Huet anomalies and micro-megakaryocytes in myelodysplastic syndrome.
1987. Br J Haematol 63:665, 1986.
274. Nolan KF, Schwaeble W, Kaluz S, et al: Molecular cloning of the cDNA coding for 309. Arnaout MA: Leukocyte adhesion molecules deficiency: Its structural basis, patho-
properdin, a positive regulator of the alternative pathway of human complement. Eur J physiology and implications for modulating the inflammatory response. Immunol Rev
Immunol 21:771, 1991. 114:145, 1990.
275. Super M, Thiel S, Lu J, et al: Association of low levels of mannan-binding protein with 310. Corbi AL, Larson RS, Kishimoto TK, et al: Chromosomal location of the genes encod-
a common defect of opsonisation. Lancet 2:1236, 1989. ing the leukocyte adhesion receptors LFA-1, Mac-1 and p150,95. Identification of a
276. Jack DL, Klein NJ, Turner MW: Mannose-binding lectin: Targeting the microbial world gene cluster involved in cell adhesion. J Exp Med 167:1597, 1988.
for complement attack and opsonophagocytosis. Immunol Rev 180:86, 2001. 311. Hayward AR, Harvey BA, Leonard J, et al: Delayed separation of the umbilical cord,
277. Turner MW: The role of mannose-binding lectin in health and disease. Mol Immunol widespread infections, and defective neutrophil mobility. Lancet 1:1099, 1979.
40:423, 2003. 312. Crowley CA, Curnutte JT, Rosin RE, et al: An inherited abnormality of neutrophil
278. Trinchieri G, Sher A: Cooperation of Toll-like receptor signals in innate immune adhesion. Its genetic transmission and its association with a missing protein. N Engl J
defence. Nat Rev Immunol 7:179, 2007. Med 302:1163, 1980.
279. von Bernuth H, Picard C, Jin Z, et al: Pyogenic bacterial infections in humans with 313. Arnaout MA, Pitt J, Cohen HJ, et al: Deficiency of a granulocyte-membrane glycopro-
MyD88 deficiency. Science 321:691, 2008. tein (gp150) in a boy with recurrent bacterial infections. N Engl J Med 306:693, 1982.
280. Buckley RH: Immunodeficiency diseases. JAMA 258:2841, 1987. 314. Dana N, Todd RF, III, Pitt J, et al: Deficiency of a surface membrane glycoprotein (Mo1)
281. Boxer LA, Smolen JE: Neutrophil granule constituents and their release in health and in man. J Clin Invest 73:153, 1984.
disease. Hematol Oncol Clin North Am 2:101, 1988. 315. Anderson DC, Smith CW: Leukocyte adhesion deficiencies, in The Metabolic and
282. Ward DM, Shiflett SL, Kaplan J: Chediak-Higashi syndrome: A clinical and molecular Molecular Basis of Inherited Disease, 8th ed, edited by Scriver C, Beaudet A, Sly W, Valle
view of a rare lysosomal storage disorder. Curr Mol Med 2:469, 2002. D, Childs B, Kinzler K, Vogelstein B, p 4829. McGraw-Hill, New York, 2001.
283. Creel D, Boxer LA, Fauci AS: Visual and auditory anomalies in Chediak-Higashi syn- 316. Springer TA, Thompson WS, Miller LJ, et al: Inherited deficiency of the Mac-1, LFA-1,
drome. Electroencephalogr Clin Neurophysiol 55:252, 1983. p150,95 glycoprotein family and its molecular basis. J Exp Med 160:1901, 1984.
284. Boxer GJ, Holmsen H, Robkin L, et al: Abnormal platelet function in Chediak-Higashi 317. Wagner DD, Frenette PS: The vessel wall and its interactions. Blood 111:5271, 2008.
syndrome. Br J Haematol 35:521, 1977. 318. Petrequin PR, Todd RF, III, Devall LJ, et al: Association between gelatinase release and
285. Abo T, Roder JC, Abo W, et al: Natural killer (HNK-1+) cells in Chediak-Higashi increased plasma membrane expression of the Mo1 glycoprotein. Blood 69:605, 1987.
patients are present in normal numbers but are abnormal in function and morphology. 319. Anderson DC, Springer TA: Leukocyte adhesion deficiency: An inherited defect in the
J Clin Invest 70:193, 1982. Mac-1, LFA-1, and p150,95 glycoproteins. Annu Rev Med 38:175, 1987.
286. Introne W, Boissy RE, Gahl WA: Clinical, molecular, and cell biological aspects of Che- 320. Schwartz BR, Wayner EA, Carlos TM, et al: Identification of surface proteins mediating
diak-Higashi syndrome. Mol Genet Metab 68:283, 1999. adherence of CD11/CD18-deficient lymphoblastoid cells to cultured human endothe-
287. Steinbrinck W: Über ene neue granulations anomalie der leukocyten. Dtsch Arch Klin lium. J Clin Invest 85:2019, 1990.
Med 193:577, 1948. 321. Mizgerd JP, Kubo H, Kutkoski GJ, et al: Neutrophil emigration in the skin, lungs, and
288. Chediak MM: New leukocyte anomaly of constitutional and familial character. Rev peritoneum: Different requirements for CD11/CD18 revealed by CD18-deficient mice.
Hematol 7:362, 1952. J Exp Med 186:1357, 1997.
289. Higashi O: Congenital gigantism of peroxidase granules; the first case ever reported of 322. Anderson DC, Rothlein R, Marlin SD, et al: Impaired transendothelial migration by
qualitative abnormity of peroxidase. Tohoku J Exp Med 59:315, 1954. neonatal neutrophils: Abnormalities of Mac-1 (CD11b/CD18)-dependent adherence
290. Blume RS, Bennett JM, Yankee RA, et al: Defective granulocyte regulation in the Che- reactions. Blood 76:2613, 1990.
diak-Higashi syndrome. N Engl J Med 279:1009, 1968. 323. Mulligan MS, Varani J, Dame MK, et al: Role of endothelial-leukocyte adhesion
291. White JG, Clawson CC: The Chediak-Higashi syndrome; the nature of the giant neu- molecule 1 (ELAM-1) in neutrophil-mediated lung injury in rats. J Clin Invest
trophil granules and their interactions with cytoplasm and foreign particulates. I. 88:1396, 1991.
Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifesta- 324. Wertheimer SJ, Myers CL, Wallace RW, et al: Intercellular adhesion molecule-1 gene
tions of cytoplasmic injury and sequestration. III. Interactions between giant organelles expression in human endothelial cells. Differential regulation by tumor necrosis fac-
and foreign particulates. Am J Pathol 98:151, 1980. tor-alpha and phorbol myristate acetate. J Biol Chem 267:12030, 1992.
292. Andrews T, Sullivan KE: Infections in patients with inherited defects in phagocytic 325. Malawista SE, de Boisfleury CA, Boxer LA: Random locomotion and chemotaxis of
function. Clin Microbiol Rev 16:597, 2003. human blood polymorphonuclear leukocytes from a patient with leukocyte adhe-
293. Trambas CM, Griffiths GM: Delivering the kiss of death. Nat Immunol 4:399, 2003. sion deficiency-1: Normal displacement in close quarters via chimneying. Cell Motil
294. Ingraham LM, Burns CP, Boxer LA, et al: Fluidity properties and liquid composition of Cytoskeleton 46:183, 2000.
erythrocyte membranes in Chediak-Higashi syndrome. J Cell Biol 89:510, 1981. 326. Arnaout MA: Structure and function of the leukocyte adhesion molecules CD11/
295. Barbosa MD, Barrat FJ, Tchernev VT, et al: Identification of mutations in two major CD18. Blood 75:1037, 1990.
mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse. Hum 327. Cao D, Mizukami IF, Garni-Wagner BA, et al: Human urokinase-type plasminogen
Mol Genet 6:1091, 1997. activator primes neutrophils for superoxide anion release. Possible roles of complement
296. Stinchcombe JC, Page LJ, Griffiths GM: Secretory lysosome biogenesis in cytotoxic receptor type 3 and calcium. J Immunol 154:1817, 1995.
T lymphocytes from normal and Chediak Higashi syndrome patients. Traffic 1:435, 328. Altieri DC, Bader R, Mannucci PM, et al: Oligospecificity of the cellular adhesion
2000. receptor Mac-1 encompasses an inducible recognition specificity for fibrinogen. J Cell
297. Tchernev VT, Mansfield TA, Giot L, et al: The Chediak-Higashi protein interacts with Biol 107:1893, 1988.
SNARE complex and signal transduction proteins. Mol Med 8:56, 2002. 329. Wilson RW, Ballantyne CM, Smith CW, et al: Gene targeting yields a CD18-mutant
298. Filipovich AH: Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin mouse for study of inflammation. J Immunol 151:1571, 1993.
Allergy Clin Immunol 6:410, 2006. 330. Stark MA, Huo Y, Burcin TL, et al: Phagocytosis of apoptotic neutrophils regulates
299. Eapen M, DeLaat CA, Baker KS, et al: Hematopoietic cell transplantation for Chedi- granulopoiesis via IL-23 and IL-17. Immunity 22:285, 2005.
ak-Higashi syndrome. Bone Marrow Transplant 39:411, 2007. 331. Yakubenia S, Wild MK: Leukocyte adhesion deficiency II. Advances and open ques-
300. Tardieu M, Lacroix C, Neven B, et al: Progressive neurologic dysfunctions 20 years after tions. FEBS J 273:4390, 2006.
allogeneic bone marrow transplantation for Chediak-Higashi syndrome. Blood 106:40, 332. Helmus Y, Denecke J, Yakubenia S, et al: Leukocyte adhesion deficiency II patients with
2005. a dual defect of the GDP-fucose transporter. Blood 107:3959, 2006.

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