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References
Nagasawa T, Hirota S, Tachibana K, Takakura N, Nishikawa S, Kitamura Y, Yoshida N, Kikutani H, Kishimoto T (1996) Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1. Nature 382: 635–638
Zou YR, Kottmann AH, Kuroda M, Taniuchi I, Littman DR (1998) Function of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development. Nature 393: 595–599
Lazarini F, Tham TN, Casanova P, Arenzana-Seisdedos F, Dubois-Dalcq M (2003) Role of the alpha-chemokine stromal cell-derived factor (SDF-1) in the developing and mature central nervous system. Glia 42: 139–148
Ma Q,_ Jones D, Borghesani PR, Segal RA, Nagasawa T, Kishimoto T, Bronson RT, Springer TA (1998) Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4-and SDF-1-deficient mice. Proc Natl Acad Sci USA 95: 9448–9453
Ara T, Tokoyoda K, Sugiyama T, Egawa T, Kawabata K, Nagasawa T (2003) Long-term hematopoietic stem cells require stromal cell-derived factor-1 for colonizing bone marrow during ontogeny. Immunity 19: 257–267
Petit I, Szyper-Kravitz M, Nagler A, Lahav M, Peled A, Habler L, Ponomaryov T, Taichman RS, Arenzana-Seisdedos F, Fujii N et al (2002) G-CSF induces stem cell mobilization by decreasing bone marrow SDF-1 and up-regulating CXCR4. Nat Immunol 3: 687–694
Papayannopoulou T, Priestley GV, Bonig H, Nakamoto B (2003) The role of G-protein signaling in hematopoietic stem/progenitor cell mobilization. Blood 101: 4739–4747
Liles WC, Broxmeyer HE, Rodger E, Wood B, Hubel K, Cooper S, Hangoc G, Bridger GJ, Henson GW, Calandra G et al (2003) Mobilization of hematopoietic progenitor cells in healthy volunteers by AMD3100, a CXCR4 antagonist. Blood 102: 2728–2730
Broxmeyer HE, Orschell CM, Clapp DW, Hangoc G, Cooper S, Plett PA, Liles WC, Li X, Graham-Evans B, Campbell TB et al (2005) Rapid mobilization of murine and human hematopoietic stem and progenitor cells with AMD3100, a CXCR4 antagonist. J Exp Med 201: 1307–1318
Devine SM, Flomenberg N, Vesole DH, Liesveld J, Weisdorf D, Badel K, Calandra G, Dipersio JF (2004) Rapid mobilization of CD34+ cells following administration of the CXCR4 antagonist AMD3100 to patients with multiple myeloma and non-Hodgkin’s lymphoma. J Clin Oncol 22: 1095–1102
Flomenberg N, Devine SM, Dipersio JF, Liesveld JL, McCarty JM, Rowley SD, Vesole DH, Badel K, Calandra G (2005) The use of AMD3100 plus G-CSF for autologous hematopoietic progenitor cell mobilization is superior to G-CSF alone. Blood 106: 1867–1874
Liles WC, Rodger E, Broxmeyer HE, Dehner C, Badel K, Calandra G, Christensen J, Wood B, Price TH, Dale DC (2005) Augmented mobilization and collection of CD34+ hematopoietic cells from normal human volunteers stimulated with granulocyte-colony-stimulating factor by single-dose administration of AMD3100, a CXCR4 antagonist. Transfusion 45: 295–300
Hernandez PA, Gorlin RJ, Lukens JN, Taniuchi S, Bohinjec J, Francois F, Klotman ME, Diaz GA (2003) Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. Nat Genet 34: 70–74
Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R et al (2004) Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 104: 444–452
Balabanian K, Lagane B, Pablos JL, Laurent L, Planchenault T, Verola O, Lebbe C, Kerob D, Dupuy A, Hermine O et al (2004) WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. Blood 105: 2449–2457
Kawai T, Choi U, Whiting-Theobald NL, Linton GF, Brenner S, Sechler JM, Murphy PM, Malech HL (2005) Enhanced function with decreased internalization of carboxyterminus truncated CXCR4 responsible for WHIM syndrome. Exp Hematol 33: 460–468
Haribabu B, Richardson RM, Fisher I, Sozzani S, Peiper SC, Horuk R, Ali H, Snyderman R (1997) Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization. J Biol Chem 272: 28726–28731
Signoret N, Rosenkilde MM, Klasse PJ, Schwartz TW, Malim MH, Hoxie JA, Marsh M (1998) Differential regulation of CXCR4 and CCR5 endocytosis. J Cell Sci 111: 2819–2830
Signoret N, Oldridge J, Pelchen-Matthews A, Klasse PJ, Tran T, Brass LF, Rosenkilde MM, Schwartz TW, Holmes W, Dallas W et al (1997) Phorbol esters and SDF-1 induce rapid endocytosis and down modulation of the chemokine receptor CXCR4. J Cell Biol 139: 651–664
Amara A, Gall SL, Schwartz O, Salamero J, Montes M, Loetscher P, Baggiolini M, Virelizier JL, Arenzana-Seisdedos F (1997) HIV coreceptor downregulation as antiviral principle: SDF-1alpha-dependent internalization of the chemokine receptor CXCR4 contributes to inhibition of HIV replication. J Exp Med 186: 139–146
Orsini MJ, Parent JL, Mundell SJ, Benovic JL, Marchese A (1999) Trafficking of the HIV coreceptor CXCR4. Role of arrestins and identification of residues in the C-terminal tail that mediate receptor internalization. J Biol Chem 274: 31076–31086
Cheng ZJ, Zhao J, Sun Y, Hu W, Wu YL, Cen B, Wu GX, Pei G (2000) Beta-arrestin differentially regulates the chemokine receptor CXCR4-mediated signaling and receptor internalization, and this implicates multiple interaction sites between beta-arrestin and CXCR4. J Biol Chem 275: 2479–2485
Babcock GJ, Farzan M, Sodroski J (2003) Ligand-independent dimerization of CXCR4, a principal HIV-1 coreceptor. J Biol Chem 278: 3378–3385
Balabanian K, Lagane B, Infantino S, Chow KY, Harriague J, Moepps B, Arenzana-Seisdedos F, Thelen M, Bachelerie F (2005) The chemokine SDF-1/CXCL12 binds to and signals through the orphan receptor RDC1 in T lymphocytes. J Biol Chem 280: 35760–35766
Martin C, Burdon PC, Bridger G, Gutierrez-Ramos JC, Williams TJ, Rankin SM (2003) Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return following senescence. Immunity 19: 583–593
Suratt BT, Petty JM, Young SK, Malcolm KC, Lieber JG, Nick JA, Gonzalo JA, Henson PM, Worthen GS (2004) Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis. Blood 104: 565–571
Lum JJ, Bren G, McClure R, Badley AD (2005) Elimination of senescent neutrophils by TNF-related apoptosis-inducing ligand. J Immunol 175: 1232–1238
Aprikyan AA, Liles WC, Park JR, Jonas M, Chi EY, Dale DC (2000) Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 95: 320–327
Wetzler M, Talpaz M, Kellagher MJ, Gutterman JU, Kurzrock R (1992) Myelokathexis: normalization of neutrophil counts and morphology by GM-CSF. JAMA 267: 2179–2180
Mentzer WC Jr, Johnston RB Jr, Baehner RL, Nathan DG (1977) An unusual form of chronic neutropenia in a father and daughter with hypogammaglobulinaemia. Br J Haematol 36: 313–322
Zuelzer WW (1964) “Myelokathexis” — a New form of chronic granulocytopenia. Report of a case. N Engl J Med 270: 699–704
Gorlin RJ, Gelb B, Diaz GA, Lofsness KG, Pittelkow MR, Fenyk JR Jr (2000) WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies. Am J Med Genet 91: 368–376
Hess U, Ganser A, Schnurch HG, Seipelt G, Ottmann OG, Falk S, Schulz G, Hoelzer D (1992) Myelokathexis treated with recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF). Br J Haematol 80: 254–256
Arai J, Wakiguchi H, Hisakawa H, Kubota H, Kurashige T (2000) A variant of myelokathexis with hypogammaglobulinemia: lymphocytes as well as neutrophils may reverse in response to infections. Pediatr Hematol Oncol 17: 171–176
Imashuku S, Miyagawa A, Chiyonobu T, Ishida H, Yoshihara T, Teramura T, Kuriyama K, Imamura T, Hibi S, Morimoto A et al (2002) Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts, hypogammaglobulinemia, infections, and myelokathexis. Ann Hematol 81: 470–473
Chae KM, Ertle JO, Tharp MD (2001) B-cell lymphoma in a patient with WHIM syndrome. J Am Acad Dermatol 44: 124–128
Wetzler M, Talpaz M, Kleinerman ES, King A, Huh YO, Gutterman JU, Kurzrock R (1990) A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia. Am J Med 89: 663–672
Nie Y, Waite J, Brewer F, Sunshine MJ, Littman DR, Zou YR (2004) The role of CXCR4 in maintaining peripheral B cell compartments and humoral immunity. J Exp Med 200: 1145–1156
Bowman EP, Campbell JJ, Soler D, Dong Z, Manlongat N, Picarella D, Hardy RR, Butcher EC (2000) Developmental switches in chemokine response profiles during B cell differentiation and maturation. J Exp Med 191: 1303–1318
Muehlinghaus G, Cigliano L, Huehn S, Peddinghaus A, Leyendeckers H, Hauser AE, Hiepe F, Radbruch A, Arce S, Manz RA (2005) Regulation of CXCR3 and CXCR4 expression during terminal differentiation of memory B cells into plasma cells. Blood 105: 3965–3971
Krill CE Jr, Smith HD, Mauer AM (1964) Chronic idiopathic neutropenia. N Engl J Med 270: 973–979
Diaz GA (2005) CXCR4 mutations in WHIM syndrome: a misguided immune system? Immunol Rev 203: 235–243
Diaz GA, Gulino AV (2005) WHIM syndrome: a defect in CXCR4 signaling. Curr Allergy Asthma Rep 5: 350–355
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Badolato, R., Bonomi, V., Tassone, L. (2006). From CXCR4 mutations to WHIM syndrome. In: Badolato, R., Sozzani, S. (eds) Lymphocyte Trafficking in Health and Disease. Progress in Inflammation Research. Birkhäuser Basel. https://doi.org/10.1007/3-7643-7442-X_14
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DOI: https://doi.org/10.1007/3-7643-7442-X_14
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