Phagocyte deficiencies

Clinical Immunology: Principles and Practice: Fourth Edition

Volumn , Issue , 2013, Pages 270-283

  Uzel, Gülbô ^a   Holland, Steven M ^a,b  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^b Laboratory of Clinical Infectious Diseases   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84934958447     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7234-3691-1.00042-8     Document Type: Chapter

References (47)

1. Kaushansky K. Lineage-specific hematopoietic growth factors. N Engl J Med 2006, 354:2034-2045.
2. Berliner N. Lessons from congenital neutropenia: 50 years of progress in understanding myelopoiesis. Blood 2008, 111(12):5427-5432.
3. Geissmann F., Manz M.G., Jung S., et al. Development of monocytes, macrophages, and dendritic cells. Science 2010, 327(5966):656-661.
4. Bouma G., Ancliff P.J., Thrasher A.J., Burns S.O. Recent advances in the understanding of genetic defects of neutrophil number and function. Br J Haematol 2010, 151(4):312-326.
5. Kollner I., Sodeik B., Schreek S., et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006, 108(2):493-500.
6. Dale D.C., Welte K. Cyclic and chronic neutropenia. Cancer Treat Res 2011, 157:97-108.
7. Klein C., Grudzien M., Appaswamy G., et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007, 39(1):86-92.
8. Germeshausen M., Grudzien M., Zeidler C., et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008, 111(10):4954-4957.
9. Boztug K., Appaswamy G., Ashikov A., et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009, 360(1):32-43.
10. Boocock G.R., Marit M.R., Rommens J.M. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics 2006, 87(6):758-771.
11. Huang J.N., Shimamura A. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome. Curr Opin Hematol 2010, Nov 30 [Epub ahead of print].
12. Capsoni F., Sarzi-Puttini P., Zanella A. Primary and secondary autoimmune neutropenia. Arthritis Res Ther 2005, 7(5):208-214.
13. Maheshwari A., Christensen R.D., Calhoun D.A. Immune neutropenia in the neonate. Adv Pediatr 2002, 49:317-339.
14. Borregaard N. Neutrophils, from marrow to microbes. Immunity 2010, 33(5):657-670.
15. Etzioni A. Genetic etiologies of leukocyte adhesion defects. Curr Opin Immunol 2009, 21(5):481-486.
16. Kishimoto T.K., Hollander N., Roberts T.M., et al. Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency. Cell 1987, 50(2):193-202.
17. Roos D., Meischl C., de Boer M., et al. Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. Exp Hematol 2002, 30(3):252-261.
18. Etzioni A., Gershoni-Baruch R., Pollack S., Shehadeh N. Leukocyte adhesion deficiency type II: long-term follow-up. J Allergy Clin Immunol 1998, 102(2):323-324.
19. Alon R., Etzioni A. LAD-III, a novel group of leukocyte integrin activation deficiencies. Trends Immunol 2003, 24(10):561-566.
20. Malinin N.L., Zhang L., Choi J., et al. A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. Nat Med 2009, 15(3):313-318.
21. Svensson L., Howarth K., McDowall A., et al. Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat Med 2009, 15(3):306-312.
22. Winkelstein J.A., Marino M.C., Richard Johnston J., et al. Chronic Granulomatous Disease: Report on a National Registry of 368 Patients. Medicine 2000, 79:155-169.
23. Segal A.W. How neutrophils kill microbes. Annu Rev Immunol 2005, 23:197-223.
24. Papayannopoulos V., Zychlinsky A. NETs: a new strategy for using old weapons. Trends Immunol 2009, 30(11):513-521.
25. Roos D., Kuhns D.B., Maddalena A., et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis 2010, 45(3):246-265.
26. Royer-Pokora B., Kunkel L.M., Monaco A.P., et al. Cloning the gene for an inherited human disorder-chronic granulomatous disease-on the basis of its chromosomal location. Nature 1986, 322(6074):32-38.
27. Deardorff M.A., Gaddipati H., Kaplan P., et al. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab 2008, 94(4):498-502.
28. Roos D., Kuhns D.B., Maddalena A., et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis 2010, 44(4):291-299.
29. Matute J.D., Arias A.A., Wright N.A., et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 2009, 114(15):3309-3315.
30. Kuhns D.B., Alvord W.G., Heller T., et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med 2010, 363(27):2600-2610.
31. Lublin M., Bartlett D.L., Danforth D.N., et al. Hepatic abscess in patients with chronic granulomatous disease. Ann Surg 2002, 235(3):383-391.
32. Feld J.J., Hussain N., Wright E.C., et al. Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology 2008, 134(7):1917-1926.
33. Segal B.H., DeCarlo E.S., Kwon-Chung K.J., et al. Aspergillus nidulans infection in chronic granulomatous disease. Medicine 1998, 77(5):345-354.
34. Vinh D.C., Shea Y.R., Jones P.A., et al. Chronic invasive aspergillosis caused by Aspergillus viridinutans. Emerg Infect Dis 2009, 15(8):1292-1294.
35. Siddiqui S., Anderson V.L., Hilligoss D.M., et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis 2007, 45(6):673-681.
36. Greenberg D.E., Shoffner A.R., Zelazny A.M., et al. Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease. Emerg Infect Dis 2010, 16(9):1341-1348.
37. Marciano B.E., Rosenzweig S.D., Kleiner D.E., et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics 2004, 114(2):462-468.
38. De Ravin S.S., Naumann N., Cowen E.W., et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol 2008, 122(6):1097-1103.
39. Kang E.M., Marciano B.E., DeRavin S., et al. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol 2011, 127(6):1319-1326.
40. Lanza F. Clinical manifestation of myeloperoxidase deficiency. J Mol Med 1998, 76(10):676-681.
41. Gombart A.F., Koeffler H.P. Neutrophil specific granule deficiency and mutations in the gene encoding transcription factor C/EBP(epsilon). Curr Opin Hematol 2002, 9(1):36-42.
42. Kaplan J., De Domenico I., Ward D.M. Chediak-Higashi syndrome. Curr Opin Hematol 2008, 15(1):22-29.
43. Freeman A.F., Holland S.M. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res 2009, 65:32R-37R.
44. Milner J.D., Sandler N.G., Douek D.C. Th17 cells, Job's syndrome and HIV: opportunities for bacterial and fungal infections. Curr Opin HIV AIDS 2010, 5:179-183.
45. Zhang Q., Davis J.C., Lamborn I.T., et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med 2009, 361(21):2046-2055.
46. Hsu A.P., Sampaio E.P., Khan J., et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011, 118:2653-2655.
47. Elloumi H.Z., Holland S.M. Diagnostic assays for chronic granulomatous disease and other neutrophil disorders. Methods Mol Biol 2007, 412:505-523.