The BLNK adaptor protein has a nonredundant role in human B-cell differentiation

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 1, 2014, Pages

  Lagresle Peyrou, Chantal ^a,b   Millili, Michèle ^a,c   Luce, Sonia ^b   Boned, Annie ^a,c   Sadek, Hanem ^a,b   Rouiller, Julien ^a,b   Frange, Pierre ^d,e   Cros, Guilhem ^d   Cavazzana, Marina ^a,b   André Schmutz, Isabelle ^b   Schiff, Claudine ^a,c  

^a INSERM   (France)

^b IMAGINE INSTITUTE   (France)

^c CENTRE D IMMUNOLOGIE DE MARSEILLE LUMINY   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Agammaglobulinemia; B lymphocyte; BLNK protein; gene rearrangement; gene therapy; lymphopoiesis; pre B cell receptor; SCID hu mouse

Indexed keywords

ADAPTOR PROTEIN; BLNK ADAPTOR PROTEIN; IMMUNOGLOBULIN HEAVY CHAIN; IMMUNOGLOBULIN KAPPA CHAIN; UNCLASSIFIED DRUG; B CELL LINKER PROTEIN; LYMPHOCYTE ANTIGEN RECEPTOR; NANOBODY; PROTEIN PRECURSOR; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AGAMMAGLOBULINEMIA; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; BONE MARROW; CASE REPORT; CONTROLLED STUDY; FLOW CYTOMETRY; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENETIC COMPLEMENTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNOGLOBULIN HEAVY CHAIN GENE; IMMUNOGLOBULIN VARIABLE REGION; IN VITRO STUDY; IN VIVO STUDY; MOUSE; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; STEM CELL GENE THERAPY; ANIMAL; B LYMPHOCYTE; CELL DIFFERENTIATION; GENETICS; IMMUNOLOGY; MUTATION; NONOBESE DIABETIC MOUSE; PATHOLOGY; SCID MOUSE; TRANSPLANTATION; XENOGRAFT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGAMMAGLOBULINEMIA; ANIMALS; B-LYMPHOCYTES; BONE MARROW; CELL DIFFERENTIATION; GENE EXPRESSION; GENETIC COMPLEMENTATION TEST; HUMANS; IMMUNOGLOBULIN KAPPA-CHAINS; MICE; MICE, INBRED NOD; MICE, SCID; MUTATION; PROTEIN PRECURSORS; RECEPTORS, ANTIGEN, B-CELL; SINGLE-DOMAIN ANTIBODIES; TRANSPLANTATION, HETEROLOGOUS;

EID: 84903749842     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.12.1083     Document Type: Article

References (30)

1. D. Kitamura, J. Roes, R. Kuhn, and K. Rajewsky A B cell-deficient mouse by targeted disruption of the membrane exon of the immunoglobulin mu chain gene Nature 350 1991 423 426
2. E. ten Boekel, F. Melchers, and A.G. Rolink Changes in the V(H) gene repertoire of developing precursor B lymphocytes in mouse bone marrow mediated by the pre-B cell receptor Immunity 7 1997 357 368
3. R.A. Keenan, A. De Riva, B. Corleis, L. Hepburn, S. Licence, and T.H. Winkler et al. Censoring of autoreactive B cell development by the pre-B cell receptor Science 321 2008 696 699
4. M.E. Conley, A.K. Dobbs, D.M. Farmer, S. Kilic, K. Paris, and S. Grigoriadou et al. Primary B cell immunodeficiencies: comparisons and contrasts Annu Rev Immunol 27 2009 199 227
5. M.E. Conley, A.K. Dobbs, A.M. Quintana, A. Bosompem, Y.D. Wang, and E. Coustan-Smith et al. Agammaglobulinemia and absent B lineage cells in a patient lacking the p85alpha subunit of PI3K J Exp Med 209 2012 463 470
6. Y. Minegishi, J. Rohrer, E. Coustan-Smith, H.M. Lederman, R. Pappu, and D. Campana et al. An essential role for BLNK in human B cell development Science 286 1999 1954 1957
7. M.C. van Zelm, C. Geertsema, N. Nieuwenhuis, D. de Ridder, M.E. Conley, and C. Schiff et al. Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements Am J Hum Genet 82 2008 320 332
8. C. Lagresle-Peyrou, F. Benjelloun, C. Hue, I. Andre-Schmutz, D. Bonhomme, and M. Forveille et al. Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients Mol Ther 16 2008 396 403
9. S.J. Corbett, I.M. Tomlinson, E.L. Sonnhammer, D. Buck, and G. Winter Sequence of the human immunoglobulin diversity (D) segment locus: a systematic analysis provides no evidence for the use of DIR segments, inverted D segments, "minor" D segments or D-D recombination J Mol Biol 270 1997 587 597
10. E. Meffre, M. Milili, C. Blanco-Betancourt, H. Antunes, M.C. Nussenzweig, and C. Schiff Immunoglobulin heavy chain expression shapes the B cell receptor repertoire in human B cell development J Clin Invest 108 2001 879 886
11. J.G. Noordzij, S. de Bruin-Versteeg, N.S. Verkaik, J.M. Vossen, R. de Groot, and E. Bernatowska et al. 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 2002 2145 2152
12. J.G. Noordzij, N.S. Verkaik, M. van der Burg, L.R. van Veelen, S. de Bruin-Versteeg, and W. Wiegant et al. Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow Blood 101 2003 1446 1452
13. E.G. van Lochem, V.H.J. van der Velden, H.K. Wind, J.G. te Marvelde, N.A.C. Westerdaal, and J.J.M. van Dongen Immunophenotypic differentiation patterns of normal hematopoiesis in human bone marrow: reference patterns for age-related changes and disease-induced shifts Cytometry B Clin Cytom 60 2004 1 13
14. M.E. Hystad, J.H. Myklebust, T.H. Bo, E.A. Sivertsen, E. Rian, and L. Forfang et al. Characterization of early stages of human B cell development by gene expression profiling J Immunol 179 2007 3662 3671
15. M. Schebesta, P.L. Pfeffer, and M. Busslinger Control of pre-BCR signaling by Pax5-dependent activation of the BLNK gene Immunity 17 2002 473 485
16. K. Johnson, T. Hashimshony, C.M. Sawai, J.M. Pongubala, J.A. Skok, and I. Aifantis et al. Regulation of immunoglobulin light-chain recombination by the transcription factor IRF-4 and the attenuation of interleukin-7 signaling Immunity 28 2008 335 345
17. R. Pappu, A.M. Cheng, B. Li, Q. Gong, C. Chiu, and N. Griffin et al. Requirement for B cell linker protein (BLNK) in B cell development Science 286 1999 1949 1954
18. H. Jumaa, B. Wollscheid, M. Mitterer, J. Wienands, M. Reth, and P.J. Nielsen Abnormal development and function of B lymphocytes in mice deficient for the signaling adaptor protein SLP-65 Immunity 11 1999 547 554
19. K. Hayashi, R. Nittono, N. Okamoto, S. Tsuji, Y. Hara, and R. Goitsuka et al. The B cell-restricted adaptor BASH is required for normal development and antigen receptor-mediated activation of B cells Proc Natl Acad Sci U S A 97 2000 2755 2760
20. M. Noguchi, H. Yi, H.M. Rosenblatt, A.H. Filipovich, S. Adelstein, and W.S. Modi et al. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans Cell 73 1993 147 157
21. P. Macchi, A. Villa, S. Giliani, M.G. Sacco, A. Frattini, and F. Porta et al. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID) Nature 377 1995 65 68
22. A. Puel, S.F. Ziegler, R.H. Buckley, and W.J. Leonard Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency Nat Genet 20 1998 394 397
23. M. Espeli, B. Rossi, S.J. Mancini, P. Roche, L. Gauthier, and C. Schiff Initiation of pre-B cell receptor signaling: common and distinctive features in human and mouse Semin Immunol 18 2006 56 66
24. A. Flemming, T. Brummer, M. Reth, and H. Jumaa The adaptor protein SLP-65 acts as a tumor suppressor that limits pre-B cell expansion Nat Immunol 4 2003 38 43
25. K. Hayashi, M. Yamamoto, T. Nojima, R. Goitsuka, and D. Kitamura Distinct signaling requirements for Dmu selection, IgH allelic exclusion, pre-B cell transition, and tumor suppression in B cell progenitors Immunity 18 2003 825 836
26. R. Kersseboom, S. Middendorp, G.M. Dingjan, K. Dahlenborg, M. Reth, and H. Jumaa et al. Bruton's tyrosine kinase cooperates with the B cell linker protein SLP-65 as a tumor suppressor in Pre-B cells J Exp Med 198 2003 91 98
27. H. Jumaa, L. Bossaller, K. Portugal, B. Storch, M. Lotz, and A. Flemming et al. Deficiency of the adaptor SLP-65 in pre-B-cell acute lymphoblastic leukaemia Nature 423 2003 452 456
28. C. Imai, M.E. Ross, G. Reid, E. Coustan-Smith, K.R. Schultz, and C.H. Pui et al. Expression of the adaptor protein BLNK/SLP-65 in childhood acute lymphoblastic leukemia Leukemia 18 2004 922 925
29. M. Sprangers, N. Feldhahn, S. Liedtke, H. Jumaa, R. Siebert, and M. Muschen SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells Oncogene 25 2006 5180 5186
30. R.C. Rickert New insights into pre-BCR and BCR signalling with relevance to B cell malignancies Nat Rev Immunol 13 2013 578 591