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Aiuti, A., Slavin, S., Aker, M., Ficara, F., Deola, S., Mortellaro, A., Morecki, S., Andolfi, G., Tabucchi, A., Carlucci, F., Marinello, E., Cattaneo, F., Vai, S., Servida, P., Miniero, R., Roncarolo, M. G., Bordignon, C. 2002. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science 296:2410–2413
Antonarakis, S. E., Krawczak, M., Cooper, D. N. 2000. Disease-causing mutations in the human genome. Eur. J. Pediatr. 159 Suppl 3:S173–178
Bordignon, C., Notarangelo, L. D., Nobili, N., Ferrari, G., Casorati, G., Panina, P., Mazzolari, E., Maggioni, D., Rossi, C., Servida, P., Ugazio, A. G., Mavilio, F. 1995. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science 270:470–475
Cavazzana-Calvo, M., Hacein-Bey, S., de Saint Basile, G., Gross, F., Yvon, E., Nusbaum, P., Selz, F., Hue, C., Certain, S., Casanova, J. L., Bousso, P., Deist, F. L., Fischer, A. 2000. Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease. Science 288:669–672
Cooper, D. N., Youssoufian, H. 1988. The CpG dinucleotide and human genetic disease. Hum. Genet. 78:151–155
De Vries, E. 2006. Patient-centred screening for primary immunodeficiency: a multi-stage diagnostic protocol designed for non-immunologists. Clin. Exp. Immunol. 145:204–214
Den Dunnen, J. T., Antonarakis, S. E. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15:7–12
Geha, R. S., Notarangelo, L. D., Casanova, J. L., Chapel, H., Conley, M. E., Fischer, A., Hammarstrom, L., Nonoyama, S., Ochs, H. D., Puck, J. M., Roifman, C., Seger, R., Wedgwood, J. 2007. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J. Allergy. Clin. Immunol. 120:776–794
Green, P. M., Montandon, A. J., Bentley, D. R., Ljung, R., Nilsson, I. M., Giannelli, F. 1990. The incidence and distribution of CpG—TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic. Acids. Res. 18:3227–3231
Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E., Warnatz, K., Drager, R., Eibel, H., Fischer, B., Schaffer, A. A., Mages, H. W., Kroczek, R. A., Peter, H. H. 2003. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4:261–268
Hacein-Bey-Abina, S., Le Deist, F., Carlier, F., Bouneaud, C., Hue, C., De Villartay, J. P., Thrasher, A. J., Wulffraat, N., Sorensen, R., Dupuis-Girod, S., Fischer, A., Davies, E. G., Kuis, W., Leiva, L., Cavazzana-Calvo, M. 2002. Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy. N. Engl. J. Med. 346:1185–1193
Hacein-Bey-Abina, S., Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J. I., de Saint Basile, G., Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L. E., Wissler, M., Prinz, C., Rabbitts, T. H., Le Deist, F., Fischer, A., Cavazzana-Calvo, M. 2003. LMO2-associated clonal T cell proliferation in two patients after gene therapy for SCID-X1. Science 302:415–419
Hamosh, A., Scott, A. F., Amberger, J. S., Bocchini, C. A., McKusick, V. A. 2005. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic. Acids. Res. 33:D514–517
Kanegane, H., Agematsu, K., Futatani, T., Sira, M. M., Suga, K., Sekiguchi, T., van Zelm, M. C., Miyawaki, T. 2007. Novel mutations in a Japanese patient with CD19 deficiency. Genes. Immun. 8:663–670
Kimura, H., Iyehara-Ogawa, H., Kato, T. 1994. Slippage--misalignment: to what extent does it contribute to mammalian cell mutagenesis? Mutagenesis 9:395–400
Krawczak, M., Cooper, D. N. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86:425–441
Kunkel, T. A. 1990. Misalignment-mediated DNA synthesis errors. Biochemistry 29:8003–8011
Kunkel, T. A., Soni, A. 1988. Mutagenesis by transient misalignment. J. Biol. Chem. 263:14784–14789
Maki, H. 2002. Origins of spontaneous mutations: specificity and directionality of base-substitution, frameshift, and sequence-substitution mutageneses. Annu. Rev. Genet. 36:279–303
McNaughton, J. C., Cockburn, D. J., Hughes, G., Jones, W. A., Laing, N. G., Ray, P. N., Stockwell, P. A., Petersen, G. B. 1998. Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene. Gene 222:41–51
Moshous, D., Pannetier, C., Chasseval Rd, R., Deist Fl, F., Cavazzana-Calvo, M., Romana, S., Macintyre, E., Canioni, D., Brousse, N., Fischer, A., Casanova, J. L., Villartay, J. P. 2003. Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis. J. Clin. Invest. 111:381–387.
Noordzij, J. G., De Bruin-Versteeg, S., Comans-Bitter, W. M., Hartwig, N. G., Hendriks, R. W., De Groot, R., Van Dongen, J. J. M. 2002a. Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. Pediatr. Res. 51:159–168
Noordzij, J. G., De Bruin-Versteeg, S., Hartwig, N. G., Weemaes, C. M., Gerritsen, E. J. A., Bernatowska, E., Van Lierde, S., De Groot, R., Van Dongen, J. J. M. 2002b. XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts. J. Clin. Immunol. 22:306–318
Noordzij, J. G., De Bruin-Versteeg, S., Verkaik, N. S., Vossen, J. M. J. J., De Groot, R., Bernatowska, E., Langerak, A. W., Van Gent, D. C., Van Dongen, J. J. M. 2002c. The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. Blood 100:2145–2152
Novoyatleva, T., Tang, Y., Rafalska, I., Stamm, S. 2006. Pre-mRNA missplicing as a cause of human disease. Prog. Mol. Subcell. Biol. 44:27–46
Piirila, H., Valiaho, J., Vihinen, M. 2006. Immunodeficiency mutation databases (IDbases). Hum. Mutat. 27:1200–1208
Rideout, W. M., 3rd, Coetzee, G. A., Olumi, A. F., Jones, P. A. 1990. 5-Methylcytosine as an endogenous mutagen in the human LDL receptor and p53 genes. Science 249:1288–1290
Rogozin, I. B., Pavlov, Y. I. 2003. Theoretical analysis of mutation hotspots and their DNA sequence context specificity. Mutat. Res. 544:65–85
Salzer, U., Chapel, H. M., Webster, A. D., Pan-Hammarstrom, Q., Schmitt-Graeff, A., Schlesier, M., Peter, H. H., Rockstroh, J. K., Schneider, P., Schaffer, A. A., Hammarstrom, L., Grimbacher, B. 2005. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat. Genet. 37:820–828
Sellner, L. N., Taylor, G. R. 2004. MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23:413–419
Stenson, P. D., Ball, E. V., Mort, M., Phillips, A. D., Shiel, J. A., Thomas, N. S., Abeysinghe, S., Krawczak, M., Cooper, D. N. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum. Mutat. 21:577–581
Streisinger, G., Okada, Y., Emrich, J., Newton, J., Tsugita, A., Terzaghi, E., Inouye, M. 1966. Frameshift mutations and the genetic code. This paper is dedicated to Professor Theodosius Dobzhansky on the occasion of his 66th birthday. Cold Spring Harb. Symp. Quant. Biol. 31:77–84
Van der Burg, M., De Groot, R., Comans-Bitter, W. M., Den Hollander, J. C., Hooijkaas, H., Neijens, H. J., Berger, R. M. F., Oranje, A. P., Langerak, A. W., Van Dongen, J. J. M. 2000. Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? Pediatr. Res. 47:336–343
Van der Burg, M., van Veelen, L. R., Verkaik, N. S., Wiegant, W. W., Hartwig, N. G., Barendregt, B. H., Brugmans, L., Raams, A., Jaspers, N. G., Zdzienicka, M. Z., van Dongen, J. J. M., van Gent, D. C. 2006. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J. Clin. Invest. 116:137–145
Van Zelm, M. C., Geertsema, C., Nieuwenhuis, N., de Ridder, D., Conley, M. E., Schiff, C., Tezcan, I., Bernatowska, E., Hartwig, N. G., Sanders, E. A., Litzman, J., Kondratenko, I., van Dongen, J. J. M., van der Burg, M. 2008. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Am. J. Hum. Genet. 82:320–332
Van Zelm, M. C., Reisli, I., van der Burg, M., Castano, D., van Noesel, C. J., van Tol, M. J., Woellner, C., Grimbacher, B., Patino, P. J., van Dongen, J. J. M., Franco, J. L. 2006. An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 354:1901–1912
Youssoufian, H., Antonarakis, S. E., Bell, W., Griffin, A. M., Kazazian, H. H., Jr. 1988. Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am. J. Hum. Genet. 42:718–725
Youssoufian, H., Kazazian, H. H., Jr., Phillips, D. G., Aronis, S., Tsiftis, G., Brown, V. A., Antonarakis, S. E. 1986. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324:380–382
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van der Burg, M., Van Zelm, M.C., Van Dongen, J.J. (2009). Molecular Diagnostics of Primary Immunodeficiencies: Benefits and Future Challenges. In: Finn, A., Curtis, N., Pollard, A. (eds) Hot Topics in Infection and Immunity in Children V. Advances in Experimental Medicine and Biology, vol 634. Springer, New York, NY. https://doi.org/10.1007/978-0-387-79838-7_19
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