Mutations in the mu heavy chain gene in patients with agammaglobulinemia

New England Journal of Medicine

Volumn 335, Issue 20, 1996, Pages 1486-1493

  Yel, Leman ^a,e   Minegishi, Yoshiyuki ^a   Coustan Smith, Elaine ^a   Buckley, Rebecca H ^b   Trübel, Hubert ^c   Pachman, Lauren M ^d   Kitchingman, Geoffrey R ^a   Campana, Dario ^a,e   Rohrer, Jurg ^a   Conley, Mary Ellen ^a,e  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d NORTHWESTERN UNIVERSITY   (United States)

^e UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; IMMUNOGLOBULIN MU CHAIN;

AGAMMAGLOBULINEMIA; AMINO ACID SUBSTITUTION; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; BONE MARROW CELL; CHILD; CHROMOSOME 14; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; TANDEM REPEAT;

AGAMMAGLOBULINEMIA; B-LYMPHOCYTES; CHROMOSOMES, HUMAN, PAIR 14; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOGLOBULIN MU-CHAINS; LINKAGE (GENETICS); LYMPHOCYTE COUNT; MALE; MUTATION; PEDIGREE;

EID: 10344239867     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJM199611143352003     Document Type: Article

References (43)

1. Burrows PD, Cooper MD. Regulated expression of cell surface antigens during B cell development, Semin Immunol 1990;2:189-95.
2. Melchers F, Haasner D, Grawunder U, et al. Roles of IgH and L chains and of surrogate H and L chains in the development of cells of the B lymphocyte lineage. Annu Rev Immunol 1994;12:209-25.
3. Satterthwaite A, Witte O, Genetic analysis of tyrosine kinase function in B cell development. Annu Rev Immunol 1996;14:131-54.
4. Campana D, Farrant J, Inamdar N, Webster ADB, Janossy G. Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia. J Immunol 1990;145:1675-80.
5. Conley ME. B cells in patients with X-linked agammaglobulinemia. J Immunol 1985;134:3070-4.
6. Tsukada S, Saffrari DC, Rawlings DJ, et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993;72:279-90.
7. Vetrie D, Vorechovsky I, Sideras P, et al. The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases. Nature 1993;361:226-33. [Erratum, Nature 1993;364:362.]
8. de Weers M, Brouns GS, Hinshelwood S, et al. B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. J Biol Chem 1994;269:23857-60.
9. Aoki Y, Isselbacher KJ, Pillai S. Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. Proc Natl Acad Sci U S A 1994;91:10606-9
10. Saouaf SJ, Mahajan S, Rowley RB, et al. Temporal differences in the activation of three classes of non-transmembrane protein tyrosine kinases following B-cell antigen receptor surface engagement. Proc Natl Acad Sci U S A 1994;91:9524-8.
11. Kawakami Y, Yao L, Miura T, Tsukada S, Witte ON, Kawakami T. Tyrosine phosphorylation and activation of Bruton tyrosine kinase upon Fc∈RI cross-linking. Mol Cell Biol 1994;14:5108-13.
12. Conley ME, Fitch-Hilgenberg ME, Cleveland JL, Parolini O, Rohrer J. Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum Mol Genet 1994;3:1751-6.
13. Bradley LAD, Sweatman AK, Lovering RC, et al. Mutation detection in the X-linked agammaglobullnemia gene, BTK, using single strand conformation polymorphism analysis. Hum Mol Genet 1994;3:79-83.
14. Hagemann TL, Chen Y, Rosen FS, Kwan SP. Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. Hum Mol Genet 1994;3:1743-9.
15. Vorechovsky I, Vihinen M, de Saint Basile G, et al. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet 1995;4:51-8.
16. Jin H, Webster ADB, Vihinen M, et al. Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Hum Mol Genet 1995;4:693-700.
17. Hoffman T, Winchester R, Schulkind M, Prias JL, Ayoub EM, Good RA. Hypoimmunoglobulinemia with normal T cell function in female siblings. Clin Immunol Immunopathol 1977;7:364-71.
18. McKinney RE Jr, Katz SL, Wilfert CM. Chronic enteroviral meningoencephalitis in agammaglobulinemic patients. Rev Infect Dis 1987;9:334-56.
19. Conley ME, Sweinberg SK. Females with a disorder phenotypically identical to X-linked agammaglobulinemia. J Clin Immunol 1992;12:139-43.
20. de La Morena M, Hare RN, Ohta Y, et al. Predominance of sterile immunoglobulin transcripts in a female phenotypically resembling Bruton's agammaglobulinemia. Eur J Immunol 1995;25:809-15.
21. Borzillo GV, Cooper MD, Kubagawa H, Landay A, Burrows PD. Isotype switching in human B lymphocyte malignancies occurs by DNA deletion: evidence for nonspecific switch recombination. J Immunol 1987; 139:1326-35.
22. Borzillo GV, Cooper MD, Bertoli LF, Landay A, Castleberry R, Burrows PD. Lineage and stage specificity of isotype switching in humans. J Immunol 1988;141:3625-33.
23. Carter M, Neale GA, Kitchingman GR. Characterization of immunoglobulin heavy chain genes from an acute lymphocytic leukemia with four rearrangements. Leukemia 1991;5:668-72.
24. Ichihara Y, Matsuoka H, Kurosawa Y. Organization of human immunoglobulin heavy chain diversity gene loci. EMBO J 1988;7:4141-50.
25. Ku G, Malissen B, Mattei MG. Chromosomal location of the Syk and ZAP-70 tyrosine kinase genes in mice and humans. Immunogenetics 1994; 40:300-2.
26. Ha H, Barnoski BL, Sun L, Emanuel BS, Burrows PD. Structure, chromosomal localization, and methylation pattern of the human mb-1 gene. J Immunol 1994;152:5749-57.
27. Milatovich A, Qiu RG, Grosschedl R, Francke U. Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human chromosome 5, band q34, and proximal mouse chromosome 11. Mamm Genome 1994;5:211-5.
28. Benger JC, Teshima I, Walter MA, Brubacher MG, Daouk GH, Cox DW. Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene: identification of a hot spot for recombination. Genomics 1991;9:614-22.
29. Migone N, Fede J, Cann H, et al. Multiple DNA fragment polymorphisms associated with immunoglobulin mu chain switch-like regions in man. Proc Natl Acad Sci USA 1983;80:467-71.
30. Nagaoka H, Ozawa K, Matsuda F, et al. Recent translocation of variable and diversity segments of the human immunoglobulin heavy chain from chromosome 14 to chromosomes 15 and 16. Genomics 1994;22:189-97.
31. Benger JC, Cox DW. Polymorphisms of the immunoglobulin heavychain delta gene and association with other constant-region genes. Am J Hum Genet 1989;45:606-14.
32. Friedlander RM, Nussenzweig MC, Leder P. Complete nucleotide sequence of the membrane form of the human IgM heavy chain. Nucleic Acids Res 1990;18:4278.
33. Shapiro MB, Senapathy P RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 1987;15:7155-74.
34. Putnam FW, Florent G, Paul C, Shinoda T, Shimizu A. Complete amino acid sequence of the Mu heavy chain of a human IgM immunoglobulin Science 1973;182:287-91.
35. Beale D, Feinstein A. Structure and function of the constant regions of immunoglobulins. Q Rev Biophys 1976;9:135-80.
36. Bubb MO, Conradie JD. Studies on the structural and biological functions of the Cμ3 and Cμ4 domains of IgM. Immunology 1978;34:449-58.
37. Kitamura D, Roes J, Kuhn R, Rajewsky K. A B cell-deficient mouse by targeted disruption of the membrane exon of the immunoglobulin mu chain gene. Nature 1991;350:423-6.
38. Gu H, Zou YR, Rajewsky K. Independent control of immunoglobulin switch recombination at individual switch regions evidenced through CreloxP-mediated gene targeting. Cell 1993;73:1155-64.
39. Chen J, Trounstine M, Alt FW, et al. Immunoglobulin gene rearrangement in B cell deficient mice generated by targeted deletion of the JH locus. Int Immunol 1993;5:647-56.
40. Thomas JD, Sideras P, Smith CIE, Vorechovsky I, Chapman V, Paul WE. Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 1993;261:355-8.
41. Rawlings DJ, Saffran DC, Tsukada S, et al. Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 1993; 261:358-61.
42. Wicker LS, Scher I. X-linked immune deficiency (xid) of CBA/N mice. Curr Top Microbiol Immunol 1986;124:87-101.
43. Smith CIE, Islam KB, Vorechovsky I, et al. X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol Rev 1994;138:159-83.