A. Etzioni, Leukocyte adhesion deficiency III -when integrins activation fails, J Clin Immunol, vol.34, issue.8, pp.900-903, 2014.

P. Robert, M. Canault, and C. Farnarier, 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, vol.186, issue.9, pp.5273-5283, 2011.

M. Poon, D. Minno, G. Oiron, R. Zotz, and R. , New Insights Into the Treatment of

G. Thrombasthenia, Transfus Med Rev, vol.30, issue.2, pp.92-99, 2016.

T. W. Kuijpers, R. Van-bruggen, and N. Kamerbeek, Natural history and early diagnosis of LAD-1/variant syndrome, Blood, vol.109, issue.8, pp.3529-3537, 2007.

D. Minno and G. , Eptacog alfa activated: a recombinant product to treat rare congenital bleeding disorders, Blood Rev, vol.29, issue.1, pp.26-33, 2015.

T. Lisman, J. Adelmeijer, H. Heijnen, and P. G. De-groot, Recombinant factor VIIa restores aggregation of alphaIIbbeta3-deficient platelets via tissue factor-independent fibrin generation, Blood, vol.103, issue.5, pp.1720-1727, 2004.

E. Mammadova-bach, V. Ollivier, and S. Loyau, Platelet glycoprotein VI binds to polymerized fibrin and promotes thrombin generation, Blood, vol.126, issue.5, pp.683-691, 2015.

C. Lecut, L. A. Feeney, and G. Kingsbury, Human platelet glycoprotein VI function is antagonized by monoclonal antibody-derived Fab fragments, J Thromb Haemost, vol.1, issue.12, pp.2653-2662, 2003.

E. O. Agbani and A. W. Poole, Procoagulant platelets: generation, function, and therapeutic targeting in thrombosis, Blood, vol.130, issue.20, pp.2171-2179, 2017.

T. W. Kuijpers, R. A. Van-lier, and D. Hamann, Leukocyte adhesion deficiency type 1

, LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins, J Clin Invest, vol.100, issue.7, pp.1725-1733, 1997.

N. Suratannon, P. Yeetong, and C. Srichomthong, Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3, Pediatr Allergy Immunol, vol.27, issue.2, pp.214-217, 2016.

T. W. Kuijpers, E. Van-de-vijver, and M. Weterman, LAD-1/variant syndrome is caused by mutations in FERMT3, Blood, vol.113, pp.4740-4746, 2009.

R. Chiesa and P. Veys, Reduced-intensity conditioning for allogeneic stem cell transplant in primary immune deficiencies, Expert Rev Clin Immunol, vol.8, issue.3, pp.255-266, 2012.

P. Saultier, L. Vidal, and M. Canault, Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features
URL : https://hal.archives-ouvertes.fr/hal-01600750

, Haematologica, vol.102, issue.6, pp.1006-1016, 2017.

, SUPPLEMENTAL REFERENCES

N. L. Malinin, L. Zhang, and J. Choi, A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans, Nat Med, vol.15, issue.3, pp.313-318, 2009.

T. W. Kuijpers, E. Van-de-vijver, and M. Weterman, LAD-1/variant syndrome is caused by mutations in FERMT3, Blood, vol.113, pp.4740-4746, 2009.

E. Van-de-vijver, M. A. Weterman, and M. De-boer, Adhesion Deficiency

, /variant syndrome is caused by mutations in FERMT3, Eur J Clin Invest, vol.39, pp.32-32, 2009.

R. Alon, M. Aker, and S. Feigelson, 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, vol.101, issue.11, pp.4437-4445, 2003.

P. Y. Stepensky, B. Wolach, and R. Gavrieli, Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation, J Pediatr Hematol Oncol, vol.37, issue.4, pp.264-268, 2015.

H. Sabnis, A. Kirpalani, and J. Horan, Leukocyte adhesion deficiency-III in an African-American patient, Pediatr Blood Cancer, vol.55, issue.1, pp.180-182, 2010.

A. Mcdowall, L. Svensson, and P. Stanley, Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro, Blood, vol.115, issue.23, pp.4834-4842, 2010.

J. Meller, N. L. Malinin, and S. Panigrahi, Novel aspects of Kindlin-3 function in humans based on a new case of leukocyte adhesion deficiency III, J Thromb Haemost JTH, vol.10, issue.7, pp.1397-1408, 2012.

E. S. Harris, T. L. Smith, G. M. Springett, A. S. Weyrich, and G. A. Zimmerman, Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): molecular characterization of the defect in an index family, Am J Hematol, vol.87, issue.3, pp.311-313, 2012.

E. S. Harris, A. O. Shigeoka, and W. Li, A novel syndrome of variant leukocyte adhesion deficiency involving defects in adhesion mediated by beta1 and beta2 integrins, Blood, vol.97, issue.3, pp.767-776, 2001.

E. S. Harris, W. Li, A. O. Shigeoka, G. A. Zimmerman, and D. E. Lorant, A new leukocyteadhesion deficiency (LAD) variant characterized by defective signaling of beta 1 and beta 2 integrins in an Epstein-Barr (EB) virus-transformed cell line, Am J Respir Crit Care Med, vol.159, issue.3, pp.264-264, 1999.

D. Aygun, S. Nepesov, R. Gershoni, and Y. Camc?oglu, Leukocyte Adhesion Deficiency III: Report of Two Siblings, Pediatr Neonatol, vol.58, issue.1, pp.99-100, 2017.

S. S. Kilic and A. Etzioni, The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1, J Clin Immunol, vol.29, issue.1, pp.117-122, 2009.

R. Pasvolsky, S. W. Feigelson, and S. S. Kilic, A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets, J Exp Med, vol.204, issue.7, pp.1571-1582, 2007.

R. Elhasid, S. S. Kilic, M. Ben-arush, A. Etzioni, and J. M. Rowe, Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome, Bone Marrow Transplant, vol.45, issue.2, pp.413-414, 2010.

T. W. Kuijpers, R. A. Van-lier, and D. Hamann, Leukocyte adhesion deficiency type 1

, LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins, J Clin Invest, vol.100, issue.7, pp.1725-1733, 1997.

T. W. Kuijpers, R. Van-bruggen, and N. Kamerbeek, Natural history and early diagnosis of LAD-1/variant syndrome, Blood, vol.109, issue.8, pp.3529-3537, 2007.

L. Svensson, K. Howarth, and A. Mcdowall, Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation, Nat Med, vol.15, issue.3, pp.306-312, 2009.

R. Crazzolara, K. Maurer, H. Schulze, B. Zieger, J. Zustin et al., A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III, Pediatr Blood Cancer, vol.62, issue.9, pp.1677-1679, 2015.

A. Mcdowall, D. Inwald, and B. Leitinger, A novel form of integrin dysfunction involving beta1, beta2, and beta3 integrins, J Clin Invest, vol.111, issue.1, pp.51-60, 2003.

K. Jurk, A. S. Schulz, and B. E. Kehrel, Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3, Thromb Haemost, vol.103, issue.5, pp.1053-1064, 2010.

N. Suratannon, P. Yeetong, and C. Srichomthon, Improvement of Recurrent Infections after IVIG Supplementation in a Patient with Leukocyte Adhesion Deficiency III with a Novel Missense Mutation in FERMT3, J Allergy Clin Immunol, vol.135, issue.2, pp.183-183, 2015.

N. Suratannon, P. Chatchatee, and P. Yeetong, Adaptive Immune defect in a rare phagocytic disorder: leukocyte adhesion deficiency III with a novel missense mutation in FERMT3, Allergy, vol.69, pp.500-500, 2014.

E. Palagano, M. A. Slatter, and P. Uva, Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene, Bone, vol.97, pp.126-129, 2017.

E. Taaning, B. Shah, and L. Schejbel, Leukocyte adhesion deficiency type III due to a novel mutation in the FERMT3 gene, Vox Sang, vol.103, pp.270-270, 2012.

B. Shah, E. Taaning, and L. Schejbel, Leukocyte adhesion deficiency type III due to a novel mutation in the FERMT3 Gene, J Clin Immunol, vol.32, pp.215-216, 2012.

R. Chiesa and P. Veys, Reduced-intensity conditioning for allogeneic stem cell transplant in primary immune deficiencies, Expert Rev Clin Immunol, vol.8, issue.3, pp.255-266, 2012.