A novel leukocyte adhesion deficiency III variant: Kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion

Journal of Immunology

Volumn 186, Issue 9, 2011, Pages 5273-5283

  Robert, Philippe ^a,b,c   Canault, Matthias ^b,c   Farnarier, Catherine ^a   Nurden, Alan ^d   Grosdidier, Charlotte ^b,c,e   Barlogis, Vincent ^e   Bongrand, Pierre ^a,b,c   Pierres, Anne ^b,c   Chambost, Hervé ^b,c,e   Alessi, Marie Christine ^b,c,e  

^a HÔPITAL DE LA CONCEPTION   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c CNRS   (France)

^d Ctr Geriatrie Ctr Hosp Univ B   (France)

^e TIMONE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COTRIMOXAZOLE; IMMUNOGLOBULIN G; ITRACONAZOLE; KINDLIN 3; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL DIFFERENTIATION; CELL SPREADING; CHILD; CODON; CONTROLLED STUDY; FERMT3 GENE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN CELL; INFANT; LEUKOCYTE ADHERENCE; LUNG DISEASE; LYMPHOCYTE; LYMPHOCYTE PROLIFERATION; MALE; NEUTROPHIL; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; T LYMPHOCYTE; THROMBOCYTE ADHESION; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE VOLUME;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOOD PLATELETS; CELL ADHESION; CELL SEPARATION; CHILD, PRESCHOOL; FEMALE; FLOW CYTOMETRY; HUMANS; IMMUNOBLOTTING; INTEGRIN ALPHA2; INTEGRINS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; NEUTROPHILS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79955538508     PISSN: 00221767     EISSN: 15506606     Source Type: Journal    
DOI: 10.4049/jimmunol.1003141     Document Type: Article

References (38)

1. Shattil, S. J., C. Kim, and M. H. Ginsberg. 2010. The final steps of integrin activation: the end game. Nat. Rev. Mol. Cell Biol. 11: 288-300.
2. Ley, K., C. Laudanna, M. I. Cybulsky, and S. Nourshargh. 2007. Getting to the site of inflammation: the leukocyte adhesion cascade updated. Nat. Rev. Immunol. 7: 678-689.
3. Coller, B. S., and S. J. Shattil. 2008. The GPIIb/IIIa (integrin alphaIIbbeta3) odyssey: a technology-driven saga of a receptor with twists, turns, and even a bend. Blood 112: 3011-3025.
4. Abram, C. L., and C. A. Lowell. 2009. The ins and outs of leukocyte integrin signaling. Annu. Rev. Immunol. 27: 339-362.
5. van Kooyk, Y., P. Weder, K. Heije, and C. G. Figdor. 1994. Extracellular Ca2+ modulates leukocyte function-associated antigen-1 cell surface distribution on T lymphocytes and consequently affects cell adhesion. J. Cell Biol. 124: 1061-1070.
6. Lub, M., Y. van Kooyk, S. J. van Vliet, and C. G. Figdor. 1997. Dual role of the actin cytoskeleton in regulating cell adhesion mediated by the integrin lymphocyte function-associated molecule-1. Mol. Biol. Cell 8: 341-351.
7. Kucik, D. F., M. L. Dustin, J. M. Miller, and E. J. Brown. 1996. Adhesion-activating phorbol ester increases the mobility of leukocyte integrin LFA-1 in cultured lymphocytes. J. Clin. Invest. 97: 2139-2144.
8. Stewart, M. P., A. McDowall, and N. Hogg. 1998. LFA-1-mediated adhesion is regulated by cytoskeletal restraint and by a Ca2+-dependent protease, calpain. J. Cell Biol. 140: 699-707. (Pubitemid 28134071)
9. Hynes, R. O. 2002. Integrins: bidirectional, allosteric signaling machines. Cell 110: 673-687. (Pubitemid 35283958)
10. Zaidel-Bar, R., S. Itzkovitz, A. Ma'ayan, R. Iyengar, and B. Geiger. 2007. Functional atlas of the integrin adhesome. Nat. Cell Biol. 9: 858-867.
11. Jurk, K., A. S. Schulz, B. E. Kehrel, D. Räpple, H. Schulze, D. Möbest, W. W. Friedrich, H. Omran, E. Deak, R. Henschler, et al. 2010. Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Thromb. Haemost. 103: 1053-1064.
12. Kuijpers, T. W., R. A. Van Lier, D. Hamann, M. de Boer, L. Y. Thung, R. S. Weening, A. J. Verhoeven, and D. Roos. 1997. Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. J. Clin. Invest. 100: 1725-1733.
13. Svensson, L., K. Howarth, A. McDowall, I. Patzak, R. Evans, S. Ussar, M. Moser, A. Metin, M. Fried, I. Tomlinson, and N. Hogg. 2009. Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation. Nat. Med. 15: 306-312.
14. Alon, R., M. Aker, S. Feigelson, M. Sokolovsky-Eisenberg, D. E. Staunton, G. Cinamon, V. Grabovsky, R. Shamri, and A. Etzioni. 2003. A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow. Blood 101: 4437-4445. (Pubitemid 36857810)
15. McDowall, A., L. Svensson, P. Stanley, I. Patzak, P. Chakravarty, K. Howarth, H. Sabnis, M. Briones, and N. Hogg. 2010. Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro. Blood 115: 4834-4842.
16. Malinin, N. L., L. Zhang, J. Choi, A. Ciocea, O. Razorenova, Y. Q. Ma, E. A. Podrez, M. Tosi, D. P. Lennon, A. I. Caplan, et al. 2009. A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans. Nat. Med. 15: 313-318.
17. Dransfield, I., C. Cabañas, A. Craig, and N. Hogg. 1992. Divalent cation regulation of the function of the leukocyte integrin LFA-1. J. Cell Biol. 116: 219-226.
18. Martin, C., X. Viviand, P. Bongrand, L. Papazian, P. Saux, and F. Gouin. 1997. Study of some phagocyte membrane receptors in patients receiving intravenous polyvalent immunoglobulins as adjunct treatment for nosocomial pneumonia. J. Crit. Care 12: 193-199. (Pubitemid 28051046)
19. Pierres, A., A. M. Benoliel, and P. Bongrand. 2008. Studying molecular interactions at the single bond level with a laminar flow chamber. Cell. Mol. Bioeng. 1: 247-262.
20. Robert, P., K. Sengupta, P. H. Puech, P. Bongrand, and L. Limozin. 2008. Tuning the formation and rupture of single ligand-receptor bonds by hyaluronan-induced repulsion. Biophys. J. 95: 3999-4012.
21. Pierres, A., O. Tissot, B. Malissen, and P. Bongrand. 1994. Dynamic adhesion of CD8-positive cells to antibody-coated surfaces: the initial step is independent of microfilaments and intracellular domains of cell-binding molecules. J. Cell Biol. 125: 945-953.
22. Pierres, A., P. Eymeric, E. Baloche, D. Touchard, A. M. Benoliel, and P. Bongrand. 2003. Cell membrane alignment along adhesive surfaces: contribution of active and passive cell processes. Biophys. J. 84: 2058-2070. (Pubitemid 36322967)
23. Cretel, E., D. Touchard, P. Bongrand, and A. Pierres. 2011. A new method for rapid detection of T lymphocyte decision to proliferate after encountering activating surfaces. J. Immunol. Methods 364: 33-39.
24. Snedecor, G. W., and W. G. Cochran. 1980. Statistical Methods. Iowa University Press, Ames, IA, p. 124-126.
25. George, J. N., J. P. Caen, and A. T. Nurden. 1990. Glanzmann's thrombasthenia: the spectrum of clinical disease. Blood 75: 1383-1395.
26. Schlegel, N., O. Gayet, M. C. Morel-Kopp, B. Wyler, M. F. Hurtaud-Roux, C. Kaplan, and J. Mc Gregor. 1995. The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene. Blood 86: 977-982.
27. Kuijpers, T. W., E. van de Vijver, M. A. J. Weterman, M. de Boer, A. T. J. Tool, T. K. van den Berg, M. Moser, M. E. Jakobs, K. Seeger, O. Sanal, et al. 2009. LAD-1/variant syndrome is caused by mutations in FERMT3. Blood 113: 4740-4746.
28. Pierres, A., A. M. Benoliel, and P. Bongrand. 1996. Measuring bonds between surface-associated molecules. J. Immunol. Methods 196: 105-120. (Pubitemid 26306733)
29. Smith-Garvin, J. E., G. A. Koretzky, and M. S. Jordan. 2009. T cell activation. Annu. Rev. Immunol. 27: 591-619.
30. Evans, E., K. Kinoshita, S. Simon, and A. Leung. 2010. Long-lived, high-strength states of ICAM-1 bonds to beta2 integrin, I: lifetimes of bonds to recombinant alphaLbeta2 under force. Biophys. J. 98: 1458-1466.
31. Vitte, J., A. M. Benoliel, P. Eymeric, P. Bongrand, and A. Pierres. 2004. Beta-1 integrin-mediated adhesion may be initiated by multiple incomplete bonds, thus accounting for the functional importance of receptor clustering. Biophys. J. 86: 4059-4074. (Pubitemid 38780281)
32. Zhang, X., E. Wojcikiewicz, and V. T. Moy. 2002. Force spectroscopy of the leukocyte function-associated antigen-1/intercellular adhesion molecule-1 interaction. Biophys. J. 83: 2270-2279.
33. Pierres, A., A. M. Benoliel, D. Touchard, and P. Bongrand. 2008. How cells tiptoe on adhesive surfaces before sticking. Biophys. J. 94: 4114-4122.
34. Dustin, M. L. 1997. Adhesive bond dynamics in contacts between T lymphocytes and glass-supported planar bilayers reconstituted with the immunoglobulin-related adhesion molecule CD58. J. Biol. Chem. 272: 15782-15788.
35. Springer, T. A. 1990. Adhesion receptors of the immune system. Nature 346: 425-434.
36. Li, D., J. J. Molldrem, and Q. Ma. 2009. LFA-1 regulates CD8+ T cell activation via T cell receptor-mediated and LFA-1-mediated Erk1/2 signal pathways. J. Biol. Chem. 284: 21001-21010.
37. Feigelson, S. W., R. Pasvolsky, S. Cemerski, Z. Shulman, V. Grabovsky, T. Ilani, A. Sagiv, F. Lemaître, C. Laudanna, A. S. Shaw, and R. Alon. 2010. Occupancy of lymphocyte LFA-1 by surface-immobilized ICAM-1 is critical for TCR- but not for chemokine-triggered LFA-1 conversion to an open headpiece high-affinity state. J. Immunol. 185: 7394-7404.
38. Vitte, J., A.-M. Benoliel, A. Pierres, and P. Bongrand. 2005. Regulation of cell adhesion. Clin. Hemorheol. Microcirc. 33: 167-188.