A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia

Journal of Allergy and Clinical Immunology

Volumn 116, Issue 3, 2005, Pages 690-697

  López Granados, Eduardo ^a,b   Pérez De Diego, Rebeca ^a   Ferreira Cerdán, Antonio ^a   Fontán Casariego, Gumersindo ^a   García Rodríguez, Maria Cruz ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

Bruton's tyrosine kinase; Genotype phenotype correlation; Missense; Molecular diagnosis; X linked agammaglobulinemia

Indexed keywords

BRUTON TYROSINE KINASE; MUTANT PROTEIN;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CHILD; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE SEVERITY; FEMALE; FLOW CYTOMETRY; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; STATISTICAL ANALYSIS; X LINKED AGAMMAGLOBULINEMIA;

ADOLESCENT; ADULT; AGAMMAGLOBULINEMIA; BLOTTING, WESTERN; CHILD; CHILD, PRESCHOOL; FEMALE; FLOW CYTOMETRY; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PROTEIN-TYROSINE KINASES;

EID: 24644447395     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2005.04.043     Document Type: Article

References (32)

1. O.C. Bruton Agammaglobulinemia Pediatrics 9 1952 722 728
2. M.E. Conley, P. Brown, A.R. Pickard, R.H. Buckley, D.S. Miller, and W.H. Raskind Expression of the gene defect in X-linked agammaglobulinemia N Engl J Med 315 1986 564 567
3. H.M. Lederman, and J.A. Winkelstein X-linked agammaglobulinemia: an analysis of 96 patients Medicine (Baltimore) 64 1985 145 156
4. R.E. McKinney Jr., S.L. Katz, and C.M. Wilfert Chronic enteroviral meningoencephalitis in agammaglobulinemic patients Rev Infect Dis 9 1987 334 356
5. S. Tsukada, D.C. Saffran, D.J. Rawlings, O. Parolini, R.C. Allen, and I. Klisak Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia Cell 72 1993 279 290
6. D. Vetrie, I. Vorechovsky, P. Sideras, J. Holland, A. Davies, and F. Flinter The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases Nature 361 1993 226 233
7. A.B. Satterthwaite, Z. Li, and O.N. Witte Btk function in B cell development and response Semin Immunol 10 1998 309 316
8. H.B. Gaspar, T. Lester, R.J. Levinsky, and C. Kinnon Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA Clin Exp Immunol 111 1998 334 338
9. T. Futatani, T. Miyawaki, S. Tsukada, S. Hashimoto, T. Kunikata, and S. Arai Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection Blood 91 1998 595 602
10. E. Lopez Granados, A.S. Porpiglia, M.B. Hogan, N. Matamoros, S. Krasovec, and C. Pignata Clinical and molecular analysis of patients with defects in micro heavy chain gene J Clin Invest 110 2002 1029 1035
11. Y. Minegishi, E. Coustan-Smith, Y.H. Wang, M.D. Cooper, D. Campana, and M.E. Conley Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia J Exp Med 187 1998 71 77
12. Y. Minegishi, E. Coustan-Smith, L. Rapalus, F. Ersoy, D. Campana, and M.E. Conley Mutations in Igalpha (CD79a) result in a complete block in B-cell development J Clin Invest 104 1999 1115 1121
13. Y. Minegishi, J. Rohrer, E. Coustan-Smith, H.M. Lederman, R. Pappu, and D. Campana An essential role for BLNK in human B cell development Science 286 1999 1954 1957
14. L.A. Bradley, A.K. Sweatman, R.C. Lovering, A.M. Jones, G. Morgan, and R.J. Levinsky Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis Hum Mol Genet 3 1994 79 83
15. H. Jin, A.D. Webster, M. Vihinen, P. Sideras, I. Vorechovsky, and L. Hammarstrom Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA) Hum Mol Genet 4 1995 693 700
16. T.L. Hagemann, Y. Chen, F.S. Rosen, and S.P. Kwan Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia Hum Mol Genet 3 1994 1743 1749
17. M.E. Conley, D. Mathias, J. Treadaway, Y. Minegishi, and J. Rohrer Mutations in btk in patients with presumed X-linked agammaglobulinemia Am J Hum Genet 62 1998 1034 1043
18. M.E. Conley Diagnostic guidelines - an international consensus document Clin Immunol 93 1999 189
19. I. Vorechovsky, L. Luo, G. de Saint Basile, L. Hammarstrom, A.D. Webster, and C.I. Smith Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase Hum Mol Genet 4 1995 2403 2405
20. M. Vihinen, F.X. Arredondo-Vega, J.L. Casanova, A. Etzioni, S. Giliani, and L. Hammarstrom Primary immunodeficiency mutation databases Adv Genet 43 2001 103 188
21. A. Plebani, A. Soresina, R. Rondelli, G.M. Amato, C. Azzari, and F. Cardinale Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study Clin Immunol 104 2002 221 230
22. M. Hyvonen, and M. Saraste Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia EMBO J 16 1997 3396 3404
23. Y. Wang, L.Y. Geer, C. Chappey, J.A. Kans, and S.H. Bryant Cn3D: sequence and structure views for Entrez Trends Biochem Sci 25 2000 300 302
24. S.R. Tzeng, M.T. Pai, F.D. Lung, C.W. Wu, P.P. Roller, and B. Lei Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia Protein Sci 9 2000 2377 2385
25. R. Perez de Diego, E. Lopez Granados, A. Ferreira Cerdan, G. Fontan Casariego, and M. Garcia Rodriguez Kinase activity and XLA phenotypic variability J Allergy Clin Immunol 115 2005 205 206
26. C. Mao, M. Zhou, and F.M. Uckun Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia J Biol Chem 276 2001 41435 41443
27. M.E. Conley, and V. Howard Clinical findings leading to the diagnosis of X-linked agammaglobulinemia J Pediatr 141 2002 566 571
28. S.J. Kornfeld, R.A. Good, and G.W. Litman Atypical X-linked agammaglobulinemia N Engl J Med 331 1994 949 951
29. D.C. Saffran, O. Parolini, M.E. Fitch-Hilgenberg, D.J. Rawlings, D.E. Afar, and O.N. Witte Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia N Engl J Med 330 1994 1488 1491
30. M.J. Bykowsky, R.N. Haire, Y. Ohta, H. Tang, S.S. Sung, and E.S. Veksler Discordant phenotype in siblings with X-linked agammaglobulinemia Am J Hum Genet 58 1996 477 483
31. H. Hansson, C.I. Smith, and T. Hard Both proline-rich sequences in the TH region of Bruton's tyrosine kinase stabilize intermolecular interactions with the SH3 domain FEBS Lett 508 2001 11 15
32. C. Picard, A. Puel, M. Bonnet, C.L. Ku, J. Bustamante, and K. Yang Pyogenic bacterial infections in humans with IRAK-4 deficiency Science 299 2003 2076 2079