Genetic etiologies of leukocyte adhesion defects

Luadanna, 2007, Getting to the site of inflammation: the leukocyte adhesion cascade up to date, Nat Rev Immunol, 7, 790 Abram, 2009, The ins and outs of leukocyte integrin signaling, Ann Rev Immunol, 27, 339, 10.1146/annurev.immunol.021908.132554 Mackay, 2008, Moving targets: cell migration inhibitors as new anti-inflammatory therapies, Nat Immunol, 9, 988, 10.1038/ni.f.210 Wagner, 2008, The vessel wall and its interaction, Blood, 111, 5271, 10.1182/blood-2008-01-078204 Etzioni, 2007, Leukocyte adhesion deficiencies: molecular basis, clinical findings and therapeutic options, Adv Exp Med Biol, 601, 51, 10.1007/978-0-387-72005-0_5 Tsai, 2007, Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord, Pediatr Allergy Immunol, 19, 25 Cox, 2008, Leukocyte adhesion deficiency type I; an important consideration in the clinical diagnosis of prepubertal priodontitis, Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 105, 86, 10.1016/j.tripleo.2007.02.026 Qasim, 2009, Allogenic hematopoietic stem cell transplantation for leukocyte adhesion deficiency, Pediatrics, 123, 836, 10.1542/peds.2008-1191 Bauer, 2008, Successful treatment of canine leukocyte adhesion deficiency by foamy virus vector, Nat Med, 14, 93, 10.1038/nm1695 Andersen, 2001, Leukocyte adhesion deficiencies, 4829 Hixson, 2004, Unique CD18 mutations involving a deletion in the extracellular stalk region and a major truncation of the cytoplasmic domain in patients with leukocyte adhesion deficiency type 1, Blood, 103, 1105, 10.1182/blood-2003-08-2780 Kobayashi, 2009, Canine neutrophil dysfunction caused by down regulation of β2 integrin expression without mutations, Vet Immunol Pathol, 130, 187, 10.1016/j.vetimm.2009.02.008 Uzel, 2008, Reversion mutations in patients with leukocyte adhesion deficiency type I (LAD-1), Blood, 111, 209, 10.1182/blood-2007-04-082552 Etzioni, 2007, Cell adhesion and leukocyte adhesion defects, 550 Yakubenia, 2006, Leukocyte adhesion deficiency. II. Advances and open questions, FEBS J, 273, 4390, 10.1111/j.1742-4658.2006.05438.x Hidalgo, 2003, Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene, Blood, 101, 1705, 10.1182/blood-2002-09-2840 Ku, 2007, Selective predisposition to bacterial infections in IRAK4 deficient children IRAK-dependent TLRs are otherwise redundant in protective immunity, J Exp Med, 204, 2407, 10.1084/jem.20070628 Lubke, 2001, Complementation cloning identified CDG-IIc, a new type of congenital disorder of glycosylation as a GDP-fucose transporter deficiency, Nat Gen, 28, 73, 10.1038/ng0501-73 Caffaro, 2006, Nucleotide sugar transporters of the Golgi apparatus: from basis science to diseases, Acc Chem Res, 39, 805, 10.1021/ar0400239 Alon, 2007, Rolling on N-glycans: a new way to present L-selectin binding sites, Nat Immunol, 8, 339, 10.1038/ni0407-339 Castriconi, 2007, Function characterization of natural killer cells in type 1 leukocyte adhesion deficiency, Blood, 109, 4873, 10.1182/blood-2006-08-038760 Helmus, 2006, Leukocyte adhesion deficiency II patients with a dual defect in the GDP-fucose transporter, Blood, 107, 3959, 10.1182/blood-2005-08-3334 Hellbusch, 2007, Golgi GDP fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II, J Biol Chem, 282, 10762, 10.1074/jbc.M700314200 Yokubenia, 2008, Leukocyte trafficking in a mouse model of leukocyte adhesion deficiency II/congenital disorder of glycosylation IIc, Blood, 112, 1472, 10.1182/blood-2008-01-132035 Chenn, 2009, A top Notch way to make astrocytes, Dev Cell, 16, 158, 10.1016/j.devcel.2009.01.019 Sturla, 2005, Core fucosylation of N-linked glycans in leukocyte adhesion deficiency/congenital disorders of glycosylation IIc fibroblasts, Glycobiology, 15, 924, 10.1093/glycob/cwi081 Ishikawa, 2005, Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc, Proc Natl Acad Sci U S A, 102, 18532, 10.1073/pnas.0504115102 Alon, 2003, LAD III a novel group of leukocyte integrin activation deficiencies, Trends Immunol, 24, 561, 10.1016/j.it.2003.08.001 Luo, 2007, Structural basis of integrin regulation and signaling, Ann Rev Immunol, 25, 619, 10.1146/annurev.immunol.25.022106.141618 Alon, 2008, Cells on the run: shear-regulated integrin activation in leukocyte rolling and arrest on endothelial cells, Curr Opin Cell Biol, 20, 525, 10.1016/j.ceb.2008.04.003 Wegener, 2007, Structural basis of integrin activation by Talin, Cell, 128, 171, 10.1016/j.cell.2006.10.048 Larjova, 2008, Kindlins: essential regulators of integrin signaling and cell matrix adhesion, EMBO Rep, 9, 1203, 10.1038/embor.2008.202 Kuijpers, 2007, Natural history and early diagnosis of LAD 1/variant syndrome, Blood, 109, 3529, 10.1182/blood-2006-05-021402 Kilic, 2009, The clinical spectrum of leukocyte adhesion deficiency (LAD III) due to defective CaLDAGGEF1, J Clin Immunol, 1, 117, 10.1007/s10875-008-9226-z Elhasid R, Kilic SS, Ben-Harush M, Etzioni A, Row J: Prompt recovery of recipient hematopoiesis following two consecutive haploidentical peripheral blood stem cell transplantation in a child with leukocyte adhesion deficiency (LHD) III syndrome. Bone Marrow Transplant 2009 Jul 6 (Epub ahead of print). Crittenden, 2004, CalDAGGEF1 integrate signaling for platelet aggregation and thrombus formation, Nat Med, 10, 982, 10.1038/nm1098 Bergmeier, 2007, Mice lacking the signaling molecule CalDAGGEF1 represent a model for leukocyte adhesion deficiency type III, J Clin Invest, 117, 1699, 10.1172/JCI30575 Posvolsky, 2007, A LAD III syndrome is associated with defective expression of the Rap1 activator CalDAGGEF1 in lymphocytes, neutrophils and platelets, J Exp Med, 204, 1571, 10.1084/jem.20070058 Harburger, 2009, Kindlin 1 and 2 directly bind the C terminal region of β integrin cytoplasmic tails and exert integrin specific activation effects, J Biol Chem, 284, 11485, 10.1074/jbc.M809233200 Hidalgo, 2009, When integrins fail to integrate, Nat Med, 15, 249, 10.1038/nm0309-249 Moser, 2008, Kindlin 3 is essential for integrin activation and platelet aggregation, Nat Med, 14, 325, 10.1038/nm1722 Moser, 2009, Kindlin 3 is required for β2 integrin mediated leukocyte adhesion to endothelial cells, Nat Med, 15, 300, 10.1038/nm.1921 Mory, 2008, Kindlin 3 a new gene involved in the pathogenesis of LAD III, Blood, 112, 2591, 10.1182/blood-2008-06-163162 Molinin, 2009, A point mutation in Kindlin 3 ablated activation of three integrin subfamilies in humans, Nat Med, 15, 313, 10.1038/nm.1917 Svensson, 2009, Leukocyte adhesion deficiency III is caused by mutations in Kindlin 3 affects integrin activation, Nat Med, 15, 306, 10.1038/nm.1931