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References

  • Ancliff, P.J., Blundell, M.P., Cory, G.O., Calle, Y., Worth, A., Kempski, H., Burns, S., Jones, G.E., Sinclair, J., Kinnon, C., Hann, I.M., Gale, R.E., Linch, D.C. & Thrasher, A.J. (2006) Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood, 108, 21822189.
  • Bain, B. (1995) Blood Cells, a Practical Guide. Blackwell Science Ltd, London.
  • Beel, K., Schollen, E., Uyttebroeck, A., Verhoef, G., Demuynck, H., Devriendt, K. & Vandenberghe, P. (2006) Gain-of-Function WASP Mutations in Pediatric and Adult Patients with Myelodysplasia or AML. Blood (ASH Annual Meeting Abstracts), 108, 4516.
  • Busque, L., Mio, R., Mattioli, J., Brais, E., Blais, N., Lalonde, Y., Maragh, M. & Gilliland, D.G. (1996) Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood, 88, 5965.
  • Carrel, L. & Willard, H.F. (2005) X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature, 434, 400404.
  • Cryan, E.F., Deasy, P.F., Buckley, R.J. & Greally, J.F. (1988) Congenital neutropenia and low serum immunoglobulin A: description and investigation of a large kindred. Thymus, 11, 185199.
  • De Saint Basile, G., Lagelouse, R.D., Lambert, N., Schwarz, K., Le Mareck, B., Odent, S., Schlegel, N. & Fischer, A. (1996) Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene. Journal of Pediatrics, 129, 5662.
  • De Saint-Basile, G., Schlegel, N., Caniglia, M., Le Deist, F., Kaplan, C., Lecompte, T., Piller, F., Fischer, A. & Griscelli, C. (1991) X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers. Annals of Hematology, 63, 107110.
  • Delforge, M., Demuynck, H., Verhoef, G., Vandenberghe, P., Zachee, P., Maertens, J., Van Duppen, V. & Boogaerts, M.A. (1998) Patients with high-risk myelodysplastic syndrome can have polyclonal or clonal haemopoiesis in complete haematological remission. British Journal of Haematology, 102, 486494.
  • Devriendt, K., Kim, A.S., Mathijs, G., Frints, S.G., Schwartz, M., Van Den Oord, J.J., Verhoef, G.E., Boogaerts, M.A., Fryns, J.P., You, D., Rosen, M.K. & Vandenberghe, P. (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nature Genetics, 27, 313317.
  • Den Dunnen, J.T. & Antonarakis, S.E. (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Human Mutation, 15, 712.
  • Germeshausen, M., Ballmaier, M. & Welte, K. (2007) Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood, 109, 9399.
  • Moulding, D.A., Blundell, M.P., Spiller, D.G., White, M.R., Cory, G.O., Calle, Y., Kempski, H., Sinclair, J., Ancliff, P.J., Kinnon, C., Jones, G.E. & Thrasher, A.J. (2007) Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. Journal of Experimental Medicine, 204, 22132224.
  • Puck, J.M. & Willard, H.F. (1998) X inactivation in females with X-linked disease. New England Journal of Medicine, 338, 325328.
  • Puck, J.M., Siminovitch, K.A., Poncz, M., Greenberg, C.R., Rottem, M. & Conley, M.E. (1990) Atypical presentation of Wiskott-Aldrich syndrome: diagnosis in two unrelated males based on studies of maternal T cell X chromosome inactivation. Blood, 75, 23692374.