Leukocyte Adhesion Deficiencies

Hematology/Oncology Clinics of North America

Volumn 27, Issue 1, 2013, Pages 101-116

  van de Vijver, Edith ^a,b   van den Berg, Timo K ^b   Kuijpers, Taco W ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SANQUIN RESEARCH   (Netherlands)

Author keywords

integrins; Inflammation; Kindlin 3; LAD I; LAD II; LAD III; Leukocyte adhesion deficiency; Leukocytes

Indexed keywords

CD18 ANTIGEN; CHEMOTAXIN; L SELECTIN; PADGEM PROTEIN; RAP PROTEIN; RAS PROTEIN; TALIN;

BACTERIAL INFECTION; CELL ADHESION; CHRONIC PERIODONTITIS; ENDOTHELIUM CELL; FLOW CYTOMETRY; GENE MUTATION; GINGIVITIS; GRANULOCYTOSIS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFECTIOUS COMPLICATION; INFLAMMATION; INTRACELLULAR SIGNALING; LEUKOCYTE ACTIVATION; LEUKOCYTE ADHESION DEFICIENCY; LEUKOCYTE EXTRAVASATION; LEUKOCYTE MIGRATION; LEUKOCYTOSIS; MYCOSIS; MYELOABLATIVE CONDITIONING; NEUTROPHIL CHEMOTAXIS; NEUTROPHIL COUNT; OMPHALITIS; OUTCOME ASSESSMENT; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN INDUCTION; PROTEIN TRANSPORT; REDUCED INTENSITY CONDITIONING; REVIEW; SEPTICEMIA; TISSUE NECROSIS;

CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; PROGNOSIS;

EID: 84872740806     PISSN: 08898588     EISSN: 15581977     Source Type: Journal    
DOI: 10.1016/j.hoc.2012.10.001     Document Type: Review

References (67)

1. Ley K., Laudanna C., Cybulsky M.I., et al. Getting to the site of inflammation: the leukocyte adhesion cascade updated. Nat Rev Immunol 2007, 7(9):678-689.
2. Murdoch C., Finn A. Chemokine receptors and their role in inflammation and infectious diseases. Blood 2000, 95(10):3032-3043.
3. Zimmerman G.A., Prescott S.M., McIntyre T.M. Endothelial cell interactions with granulocytes: tethering and signaling molecules. Immunol Today 1992, 13(3):93-100.
4. Zarbock A., Ley K., McEver R.P., et al. Leukocyte ligands for endothelial selectins: specialized glycoconjugates that mediate rolling and signaling under flow. Blood 2011, 118(26):6743-6751.
5. Kansas G.S. Selectins and their ligands: current concepts and controversies. Blood 1996, 88(9):3259-3287.
6. Barreiro O., Sanchez-Madrid F. Molecular basis of leukocyte-endothelium interactions during the inflammatory response. Rev Esp Cardiol 2009, 62(5):552-562.
7. Hynes R.O. Integrins: bidirectional, allosteric signaling machines. Cell 2002, 110(6):673-687.
8. Schymeinsky J., Mocsai A., Walzog B. Neutrophil activation via beta2 integrins (CD11/CD18): molecular mechanisms and clinical implications. Thromb Haemost 2007, 98(2):262-273.
9. Delon I., Brown N.H. Integrins and the actin cytoskeleton. Curr Opin Cell Biol 2007, 19(1):43-50.
10. Kuijpers T.W., Hakkert B.C., Hart M.H., et al. Neutrophil migration across monolayers of cytokine-prestimulated endothelial cells: a role for platelet-activating factor and IL-8. J Cell Biol 1992, 117(3):565-572.
11. Springer T.A. Traffic signals for lymphocyte recirculation and leukocyte emigration: the multistep paradigm. Cell 1994, 76(2):301-314.
12. Calderwood D.A., Zent R., Grant R., et al. The Talin head domain binds to integrin beta subunit cytoplasmic tails and regulates integrin activation. J Biol Chem 1999, 274(40):28071-28074.
13. Hogg N., Patzak I., Willenbrock F. The insider's guide to leukocyte integrin signalling and function. Nat Rev Immunol 2011, 11(6):416-426.
14. Lim J., Wiedemann A., Tzircotis G., et al. An essential role for talin during alpha(M)beta(2)-mediated phagocytosis. Mol Biol Cell 2007, 18(3):976-985.
15. Garcia-Alvarez B., de Pereda J.M., Calderwood D.A., et al. Structural determinants of integrin recognition by talin. Mol Cell 2003, 11(1):49-58.
16. Shattil S.J., Kim C., Ginsberg M.H. The final steps of integrin activation: the end game. Nat Rev Mol Cell Biol 2010, 11(4):288-300.
17. Han J., Lim C.J., Watanabe N., et al. Reconstructing and deconstructing agonist-induced activation of integrin alphaIIbbeta3. Curr Biol 2006, 16(18):1796-1806.
18. Kahner B.N., Kato H., Banno A., et al. Kindlins, integrin activation and the regulation of talin recruitment to alphaIIbbeta3. PLoS One 2012, 7(3):e34056.
19. Malinin N.L., Plow E.F., Byzova T.V. Kindlins in FERM adhesion. Blood 2010, 115(20):4011-4017.
20. Moser M., Bauer M., Schmid S., et al. Kindlin-3 is required for beta2 integrin-mediated leukocyte adhesion to endothelial cells. Nat Med 2009, 15(3):300-305.
21. Nieswandt B., Varga-Szabo D., Elvers M. Integrins in platelet activation. J Thromb Haemost 2009, 7(Suppl):1206-1209.
22. Harburger D.S., Bouaouina M., Calderwood D.A. Kindlin-1 and -2 directly bind the C-terminal region of beta integrin cytoplasmic tails and exert integrin-specific activation effects. J Biol Chem 2009, 284(17):11485-11497.
23. Etzioni A. Defects in the leukocyte adhesion cascade. Clin Rev Allergy Immunol 2010, 38(1):54-60.
24. Kuijpers T.W., Van Lier R.A., Hamann D., et al. Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. J Clin Invest 1997, 100(7):1725-1733.
25. Hanna S., Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci 2012, 1250:50-55.
26. Crowley C.A., Curnutte J.T., Rosin R.E., et al. An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein. N Engl J Med 1980, 302(21):1163-1168.
27. van de Vijver E., Maddalena A., Sanal O., et al. Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Mol Dis 2012, 48(1):53-61.
28. Movahedi M., Entezari N., Pourpak Z., et al. Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases). J Clin Immunol 2007, 27(3):302-307.
29. Qasim W., Cavazzana-Calvo M., Davies E.G., et al. Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency. Pediatrics 2009, 123(3):836-840.
30. Fischer A., Lisowska-Grospierre B., Anderson D.C., et al. Leukocyte adhesion deficiency: molecular basis and functional consequences. Immunodefic Rev 1988, 1(1):39-54.
31. von Andrian U.H., Berger E.M., Ramezani L., et al. In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes. J Clin Invest 1993, 91(6):2893-2897.
32. Hamidieh A.A., Pourpak Z., Hosseinzadeh M., et al. Reduced-intensity conditioning hematopoietic SCT for pediatric patients with LAD-1: clinical efficacy and importance of chimerism. Bone Marrow Transplant 2012, 47(5):646-650.
33. Mellouli F., Ksouri H., Barbouche R., et al. Successful treatment of Fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions. BMC Dermatol 2010, 10:10.
34. Bauer T.R., Allen J.M., Hai M., et al. Successful treatment of canine leukocyte adhesion deficiency by foamy virus vectors. Nat Med 2008, 14(1):93-97.
35. Hunter M.J., Zhao H., Tuschong L.M., et al. Gene therapy for canine leukocyte adhesion deficiency with lentiviral vectors using the murine stem cell virus and human phosphoglycerate kinase promoters. Hum Gene Ther 2011, 22(6):689-696.
36. Etzioni A., Frydman M., Pollack S., et al. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med 1992, 327(25):1789-1792.
37. Marquardt T., Brune T., Luhn K., et al. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J Pediatr 1999, 134(6):681-688.
38. Gazit Y., Mory A., Etzioni A., et al. Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Clin Immunol 2010, 30(2):308-313.
39. Yakubenia S., Wild M.K. Leukocyte adhesion deficiency II. Advances and open questions. FEBS J 2006, 273(19):4390-4398.
40. Lubke T., Marquardt T., Etzioni A., et al. Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 2001, 28(1):73-76.
41. Luhn K., Wild M.K., Eckhardt M., et al. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet 2001, 28(1):69-72.
42. Frydman M., Etzioni A., Eidlitz-Markus T., et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet 1992, 44(3):297-302.
43. Marquardt T., Luhn K., Srikrishna G., et al. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood 1999, 94(12):3976-3985.
44. McDowall A., Inwald D., Leitinger B., et al. A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins. J Clin Invest 2003, 111(1):51-60.
45. Phillips M.L., Schwartz B.R., Etzioni A., et al. Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2. J Clin Invest 1995, 96(6):2898-2906.
46. Wild M.K., Luhn K., Marquardt T., et al. Leukocyte adhesion deficiency II: therapy and genetic defect. Cells Tissues Organs 2002, 172(3):161-173.
47. Hidalgo A., Ma S., Peired A.J., et al. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood 2003, 101(5):1705-1712.
48. Etzioni A., Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood 2000, 95(11):3641-3643.
49. Luhn K., Marquardt T., Harms E., et al. Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts. Blood 2001, 97(1):330-332.
50. Harris E.S., Smith T.L., Springett G.M., et al. Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family. Am J Hematol 2012, 87(3):311-313.
51. Jurk K., Schulz A.S., Kehrel B.E., et al. Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Thromb Haemost 2010, 103(5):1053-1064.
52. Kuijpers T.W., van de Vijver E., Weterman M.A., et al. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood 2009, 113(19):4740-4746.
53. 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.
54. McDowall A., Svensson L., Stanley P., et al. Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro. Blood 2010, 115(23):4834-4842.
55. Meller J., Malinin N.L., Panigrahi S., et al. Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III (LAD-III). J Thromb Haemost 2012, 10(7):1397-1408.
56. Mory A., Feigelson S.W., Yarali N., et al. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood 2008, 112(6):2591.
57. Robert P., Canault M., Farnarier C., et al. A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion. J Immunol 2011, 186(9):5273-5283.
58. Sabnis H., Kirpalani A., Horan J., et al. Leukocyte adhesion deficiency-III in an African-American patient. Pediatr Blood Cancer 2010, 55(1):180-182.
59. 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.
60. Schmidt S., Nakchbandi I., Ruppert R., et al. Kindlin-3-mediated signaling from multiple integrin classes is required for osteoclast-mediated bone resorption. J Cell Biol 2011, 192(5):883-897.
61. Pasvolsky R., Feigelson S.W., Kilic S.S., et al. A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. J Exp Med 2007, 204(7):1571-1582.
62. Moser M., Nieswandt B., Ussar S., et al. Kindlin-3 is essential for integrin activation and platelet aggregation. Nat Med 2008, 14(3):325-330.
63. Kilic S.S., Etzioni A. The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1. J Clin Immunol 2009, 29(1):117-122.
64. Kuijpers T.W., van Bruggen R., Kamerbeek N., et al. Natural history and early diagnosis of LAD-1/variant syndrome. Blood 2007, 109(8):3529-3537.
65. van de Vijver E., De Cuyper I.M., Gerrits A.J., et al. Defects in Glanzmann thrombasthenia and LAD-III (LAD-1/v) syndrome: the role of integrin beta1 and beta3 in platelet adhesion to collagen. Blood 2012, 119(2):583-586.
66. Bialkowska K., Ma Y.Q., Bledzka K., et al. The integrin co-activator Kindlin-3 is expressed and functional in a non-hematopoietic cell, the endothelial cell. J Biol Chem 2010, 285(24):18640-18649.
67. Elhasid R., Kilic S.S., Ben-Arush M., et al. Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome. Bone Marrow Transplant 2010, 45(2):413-414.