Neutropenia in X-linked agammaglobulinemia

Clinical Immunology and Immunopathology

Volumn 81, Issue 3, 1996, Pages 271-276

  Farrar, Jason E ^a,b   Rohrer, Jurg ^b   Conley, Mary Ellen ^a,b  

^a UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

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

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; PROTEIN TYROSINE KINASE;

ARTICLE; CHILD; CLINICAL ARTICLE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; INTRAVENOUS DRUG ADMINISTRATION; MALE; NEUTROPENIA; PRIORITY JOURNAL; X LINKED AGAMMAGLOBULINEMIA;

EID: 0030560990     PISSN: 00901229     EISSN: None     Source Type: Journal    
DOI: 10.1006/clin.1996.0188     Document Type: Article

References (41)

1. 1. Conley, M. E., Parolini, O., Rohrer, J., and Campana, D., X-linked agammaglobulinemia: New approaches to old questions based on the identification of the defective gene. Immunol. Rev. 138, 5-21, 1994.
2. 2. Smith, C. I. E., Islam, K. B., Vorechovsky, I., Olerup, O., Wallin, E., Hodjattallah, R., Baskin, B., and Hammarström, L., X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol. Rev. 138, 160-183, 1994.
3. 3. Ochs, H. D., and Winkelstein, J., Disorders of the B-cell system. In "Immunologic Disorders in Infants and Children" (E. R. Stiehm, Ed.), pp. 296-338, Saunders, Philadelphia, 1996.
4. 4. Conley, M. E., Brown, P., Pickard, A. R., Buckley, R. H., Miller, D. S., Raskind, W. H., Singer, J. W., and Fialkow, P. J., Expression of the gene defect in X-linked agammaglobulinemia. N. Engl. J. Med. 315, 564-567, 1986.
5. 5. Fearon, E. R., Winkelstein, J. A., Civin, C. I., Pardoll, D. M., and Vogelstein, B., Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N. Engl. J. Med. 316, 427-431, 1987.
6. 6. Tsukada, S., Saffran, D. C., Rawlings, D. J., Parolini, O., Allen, R. C., Klisak, I., Sparkes, R. S., Kubagawa, H., Mohandas, T., Quan, S., Belmont, J. W., Cooper, M. D., Conley, M. E., and Witte, O. N., Deficient Expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72, 279-290, 1993.
7. 7. Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C. I. E., and Bentley, D. R., The gene involved in X-linked agammaglobulinemia is a member of the src family of protein-tyrosine kinases. Nature 361, 226-233, 1993.
8. 8. Musacchio, A., Gibson, T., Rice, P., Thompson, J., and Saraste, M., The PH domain: A common piece in the structural patchwork of signalling proteins. Trends Biochem. Sci. 18, 343-348, 1993.
9. 9. Bolen, J. B., Nonreceptor tyrosine protein kinases. Oncogene 8, 2025-2031, 1993.
10. 10. de Weers, M., Brouns, G. S., Hinshelwood, S., Kinnon, C., Schuurman, R. K. B., Hendriks, R. W., and Borst, J., B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. J. Biol. Chem. 269, 23,857-23,860, 1994.
11. 11. Aoki, Y., Isselbacher, K. J., and Pillai, S., Braton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. Proc. Natl. Acad. Sci. USA 91, 10,606-10,609, 1994.
12. 12. Saouaf, S. J., Mahajan, S., Rowley, R. B., Kut, S.A., Fargnoli, J., Burkhardt, A. L., Tsukada, S., Witte, O. N., and Bolen, J. B., Temporal differences in the activation of three classes of non-transmembrance protein tyrosine kinases following B-cell antigen receptor surface engagement. Proc. Natl. Acad. Sci. USA 91, 9524-9528, 1994.
13. 13. Touhara, K., Inglese, J., Pitcher, J. A., Shaw, G., and Lefkowitz, R. J., Binding of G protein βγ-subunits to pleckstrin homology domains. J. Biol. Chem. 269, 10,217-10,220, 1994.
14. 14. Tsukada, S., Simon, M. I., Witte, O. N., and Katz, A., Binding of βγ subunits of heterotrimeric G proteins to the PH domain of Bruton tyrosine kinase. Proc. Natl. Acad. Sci. USA 91, 11,256-11,260, 1994.
15. 15. Yao, L., Kawakami, Y., and Kawakami, T., The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C. Proc. Natl. Acad. Sci. USA 91, 9175-9179, 1994.
16. 16. Cory, G. O. C., Lovering, R. C., Hinshelwood, S., MacCarthy-Morrogh, L., Levinsky, R. J., and Kinnon, C., The protein product of the c-cbl protooncogene is phosphorylated after B cell receptor stimulation and binds the SH3 domain of Bruton's tyrosine kinase. J. Exp. Med. 182, 611-615, 1995.
17. 17. Cheng, G., Ye, Z., and Baltimore, D., Binding of Bruton's tyrosine kinase to Fyn, Lyn or Hck through a Src homology 3 domain-mediated interaction. Proc. Natl. Acad. Sci. USA 91, 8152-8155, 1994.
18. 18. Good, R. A., and Zak, S. J., Disturbances in gamma globulin synthesis as "experiments of nature." Pediatrics 18, 109-149, 1956.
19. 19. Buckley, R. H., and Rowlands, D. T., Agammaglobulinemia, neutropenia, fever, and abdominal pain. J. Allergy Clin. Immunol. 51, 308-318, 1973.
20. 20. Lederman, H. M., and Winkelstein, J. A., X-linked agammaglobulinemia: An analysis of 96 patients. Medicine 64, 145-156, 1985.
21. 21. Kozlowski, C., and Evans, D. I. K., Neutropenia associated with X-linked agammaglobulinemia. J. Clin. Pathol. 44, 388-390, 1991.
22. 23. Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L., Parolini, O., and Rohrer, J., Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum. Mol. Genet. 3, 1751-1756, 1994.
23. 24. Conley, M. E., and Rohrer, J., The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. Clin. Immunol. Immunopathol. 76, 192-197, 1995.
24. 25. Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., Vorechovsky, I., Hammarström, L., Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M., and Vetrie, D., Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Hum. Mol. Genet. 4, 695-700, 1995.
25. 26. Vorechovsky, I., Vihinen, M., de Saint Basile, G., Honsová, S., Hammarström, L., Müller, S., Nilsson, L., Fischer, A., and Smith, C. I. E., DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Hum. Mol. Genet. 4, 51-58, 1995.
26. 27. Vorechkovsky, I., Zhou, J.-N., Vetrie, D., Bentley, D., Björkander, J., Hammarström, L., and Smith, C. I. E., Molecular diagnosis of X-linked agammaglobulinaemia. Lancet 341, 1153, 1993.
27. 28. de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., Schuurman, R. K. B., and Hendriks, R. W., Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: Identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. Hum. Mol. Genet. 3, 161-166, 1994.
28. 29. Bradley, L. A. D., Sweatman, A. K., Lovering, R. C., Jones, A. M., Morgan, G., Levinsky, R. J., and Kinnon, C., Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. Hum. Mol. Genet. 3, 79-83, 1994.
29. 30. Hagemann, T. L., Chen, Y., Rosen, F. S., and Kwan, S.-P., Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. Hum. Mol. Genet. 3, 1743-1749, 1994.
30. 31. Zhu, Q., Zhang, M., Winkelstein, J., Chen, S., and Ochs, H. D., Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. Hum. Mol. Genet. 3, 1899-1900, 1994.
31. 32. Ohta, Y., Haire, R. N., Litman, R. T., Fu, S. M., Nelson, R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good, R. A., and Litman, G. W., Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Proc. Natl. Acad. Sci. USA 91, 9062-9066, 1994.
32. 33. Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. C., Roifman, C. M., Morgan, G., Levinsky, R. J., and Kinnon, C., Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinemia gene, including identification of an insertional hotspot. Hum. Mol. Genet. 4, 755-757, 1995.
33. 34. Vihinen, M., Cooper, M. D., de Saint Basile, G., Fischer, A., Good, R. A., Hendriks, R. W., Kinnon, C., Kwan, S., Litman, G. W., Notarangelo, L. D., Ochs, H., Rosen, F. S., Vetrie, D., Webster, A. D. B., Zegers, B. J. M., and Smith, C. I. E., Btkbase: A database of XLA-causing mutations. Immunol. Today 16, 460-465, 1995.
34. 35. Saffran, D. C., Parolini, O., Fitch-Hilgenberg, M. E., Rawlings, D. J., Afar, D. E. H., Witte, O. N., and Conley, M. E., A point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammagobulinemia. N. Engl. J. Med. 330, 1488-1491, 1994.
35. 36. Sweinberg, S. K., Wodell, R. A., Grodofsky, M. P., Greene, J. M., and Conley, M. E., Retrospective analysis of the incidence of pulmonary disease in hypogammaglobulinemia. J. Allergy Clin. Immunol. 88, 96-104, 1991.
36. 37. Conley, M. E., Park, C. L., and Douglas, S. D., Childhood common variable immunodeficiency with autoimmune disease. J. Pediatr. 108, 915-922, 1986.
37. 38. Notarangelo, L. D., Duse, M., and Ugazio, A. G., Immunodeficiency with hyper-IgM (HIM). Immunodefic. Rev. 3, 101-122, 1992.
38. 39. Allen, R. C., Armitage, R. J., Conley, M. E., Rosenblatt, H., Jenkins, N. A., Copeland, N. G., Bedell, M. A., Edelhoff, S., Disteche, C. M., Simoneaux, D. K., Fanslow, W. C., Belmont, J. W., and Spriggs, M. K. CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259, 990-993, 1993.
39. 40. Galy, A. H. M., and Spits, H., CD40 is functionally expressed on human thymic epithelial cells. J. Immunol. 149, 775-782, 1992.
40. 41. Howard, M. W., Strauss, R. G., and Johnston, R. B., Jr., Infections in patients with neutropenia. Am. J. Dis. Child. 131, 788-790, 1977.
41. 42. Weetman, R. M., and Boxer, L. A., Childhood neutropenia. Pediatr. Clin. North Am. 27, 361-375, 1980.