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The European CD40L Defect Database

This database was originally developed by the Glaxo (now GSK) group at SIB. It is no longer maintained and has not been updated since 1996. However, the information provided by CD40Lbase continues to be valid. A much more up-to-date database is available.

A few Journal References


1. 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.; Spriggs, M. K. :
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 259: 990-993, 1993.
MEDLINE UID : 93174270

2. Aruffo, A.; Farrington, M.; Hollenbaugh, D.; Li, X.; Milatovich, A.; Nonoyama, S.; Bajorath, J.; Grosmaire, L. S.; Stenkamp, R.; Neubauer, M.; Roberts, R. L.; Noelle, R. J.; Ledbetter, J. A.; Francke, U.; Ochs, H. D. :
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 72: 291-300, 1993.
MEDLINE UID : 93145330

3. Brahmi, Z.; Lazarus, K. H.; Hodes, M. E.; Baehner, R. L. :
Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome. J. Clin. Immun. 3: 127-134, 1983.

4. Conley, M. E.; Brown, P.; Pahwa, S.; Puck, J. M. :
An intrinsic B cell defect in X-linked hyper IgM syndrome (Abstract) Pediat. Res. 23: 353A, 1988.

5. DiSanto, J. P.; Bonnefoy, J. Y.; Gauchat, J. F.; Fischer, A.; de Saint Basile, G. :
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM. Nature 361: 541-543, 1993.
MEDLINE UID : 93156840

6. Dunn, K.; Lubens, R.; Stiehm, E. R. :
Reversal of neutropenia in X-linked immunodeficiency with hyper-IgM by large doses of plasma (Abstract) Clin. Res. 30: 125A, 1982.

7. Fudenberg, H. H.; Good, R.A.; Hitzig, W.; Kunkel, H.G.; Roitt, I.M.; Rosen, F.S.; Rowe, D.S.; Seligmann, M.; Soothill, J.R. :
Classification of the primary immunodeficiencies (WHO recommendation). New Eng. J. Med. 283: 656-657, 1970.

8. Fuleihan, R.; Ramesh, N.; Loh, R.; Jabara, H.; Rosen, F. S.; Chatila, T.; Fu, S. M.; Stamenkovic, I.; Geha, R. S. :
Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. Proc. Nat. Acad. Sci. 90: 2170-2173, 1993.
MEDLINE UID : 93211923

9. Gauchat, J.-F.; Aubry, J.-P.; Mazzei, G.; Life, P.; Jomotte, T.; Elson, G.; Bonnefoy, J.-Y. :
Human CD40-ligand: molecular cloning, cellular distribution and regulation of expression by factors controlling IgE production. FEBS Lett. 315: 259-266, 1993.
MEDLINE UID : 93138085

10. Gleich, G. J.; Condemi, J. J.; Vaughan, J. H. :
Dysgammaglobulinemia in the presence of plasma cells. New Eng. J. Med. 272: 331-340, 1965.

11. Graf, D.; Korthauer, U.; Mages, H. W.; Senger, G.; Kroczek, R. A. :
Cloning of TRAP, a ligand for CD40 on human T cells. Europ. J. Immun. 22: 3191-3194, 1992.
MEDLINE UID : 93076854

12. Hendriks, R. W.; Kraakman, M. E. M.; Craig, I. W.; Espanol, T.; Schuurman, R. K. B. :
Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact. Europ. J. Immun. 20: 2603-2608, 1990.
MEDLINE UID : 91099405

13. Hollenbaugh, D.; Grosmaire, L. S.; Kullas, C. D.; Chalupny, N. J.; Braesch-Andersen, S.; Noelle, R. J.; Stamenkovic, I.; Ledbetter, J. A.; Aruffo, A. :
The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity. EMBO J. 11: 4313-4321, 1992.
MEDLINE UID : 93049181

14. Hollenbaugh, D.; Wu, L. H.; Ochs, H. D.; Nonoyama, S.; Grosmaire, L. S.; Ledbetter, J. A.; Noelle, R. J.; Hill, H.; Aruffo, A. :
The random inactivation of the X chromosome carrying the defective gene responsible for X-linked hyper IgM syndrome (X-HIM) in female carriers of HIGM1. J. Clin. Invest. 94: 616-622, 1994.
MEDLINE UID : 94314965

15. Jamieson, W. M.; Kerr, M. R. :
A family with several cases of hypogammaglobulinemia. Arch. Dis. Child. 37: 330-336, 1962.

16. Kipps, T. J. :
X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome (Editorial) J. Clin. Invest. 94: 469, 1994.
MEDLINE UID : 94314943

17. Korthauer, U.; Graf, D.; Mages, H. W.; Briere, F.; Padayachee, M.; Malcolm, S.; Ugazio, A. G.; Notarangelo, L. D.; Levinsky, R. J.; Kroczek, R. A. :
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature 361: 539-541, 1993.
MEDLINE UID : 93156839

18. Kraakman, M. E. M.; de Weers, M.; Espanol, T.; Schuurman, R. K. B.; Hendriks, R. W. :
Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. Clin. Genet. 48: 46-48, 1995.

19. Kroczek, R. A.; Graf, D.; Brugnoni, D.; Giliani, S.; Korthauer, U.; Ugazio, A.; Senger, G.; Mages, H. W.; Villa, A.; Notarangelo, L. D. :
Defective expression of CD40 ligand on T cell causes 'X-linked immunodeficiency with hyper-IgM (HIGM1)'. Immun. Rev. 138: 39-59, 1994.
MEDLINE UID : 94350372

20. Kyong, C. U.; Virella, G.; Fundenberg, H. H.; Darby, C. P. :
X-linked immunodeficiency with increased IgM: clinical, ethnic, and immunologic heterogeneity. Pediat. Res. 12: 1024-1026, 1978.
MEDLINE UID : 79073909

21. Levitt, D.; Haber, P.; Rich, K.; Cooper, M. D. :
Hyper IgM immunodeficiency: a primary dysfunction of B lymphocyte isotype switching. J. Clin. Invest. 72: 1650-1657, 1983.
MEDLINE UID : 84033196

22. Lin, Q.; Rohrer, J.; Allen, R. C.; Larche, M.; Greene, J. M.; Shigeoka, A. O.; Gatti, R. A.; Derauf, D. C.; Belmont, J. W.; Conley, M. E. :
A single strand conformation polymorphism study of CD40 ligand: efficient mutation analysis and carrier detection of X-linked hyper IgM syndrome. J. Clin. Invest. 97: 196-201, 1996.
MEDLINE UID : 96133533

23. Macchi, P.; Villa, A.; Strina, D.; Sacco, M. G.; Morali, F.; Brugnoni, D.; Giliani, S.; Mantuano, E.; Fasth, A.; Andersson, B.; Zegers, B. J. M.; Cavagni, G.; Reznick, I.; Levy, J.; Zan-Bar, I.; Porat, Y.; Airo, P.; Plebani, A.; Vezzoni, P.; Notarangelo, L. D. :
Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am. J. Hum. Genet. 56: 898-906, 1995.
MEDLINE UID : 95233438

24. Mensink, E. J. B. M.; Thompson, A.; Sandkuyl, L. A.; Kraakman, M. E. M.; Schot, J. D. L.; Espanol, T.; Schuurman, R. K. B. :
X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum. Genet. 76: 96-99, 1987.

25. Notarangelo, L. D.; Duse, M.; Ugazio, A. G. :
Immunodeficiency with hyper-IgM (HIM). Immunodef. Rev. 3: 101-122, 1992.
MEDLINE UID : 92207529

26. Notarangelo, L. D.; Parolini, O.; Albertini, A.; Duse, M.; Mazzolari, E.; Plebani, A.; Camerino, G.; Ugazio, A. G. :
Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages. Hum. Genet. 88: 130-134, 1991.
MEDLINE UID : 92098082

27. Padayachee, M.; Feighery, C.; Finn, A.; McKeown, C.; Levinsky, R. J.; Kinnon, C.; Malcolm, S. :
Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 14: 551-553, 1992.
MEDLINE UID : 93052379

28. Padayachee, M.; Levinsky, R. J.; Kinnon, C.; Finn, A.; McKeown, C.; Feighery, C.; Notarangelo, L. D.; Hendriks, R. W.; Read, A. P.; Malcolm, S. :
Mapping of the X linked form of hyper IgM syndrome (HIGM1). J. Med. Genet. 30: 202-205, 1993.
MEDLINE UID : 93233132

29. Pilia, G.; Porta, B.; Padayachee, M.; Malcolm, S.; Zucchi, I.; Villa, A.; Macchi, P.; Vezzoni, P.; Schlessinger, D. :
Human CD40L gene maps between DXS144E and DXS300 in Xq26. Genomics 22: 249-251, 1994.
MEDLINE UID : 95048387

30. Ramesh, N.; Fuleihan, R.; Geha, R. :
Molecular pathology of X-linked immunoglobulin deficiency with normal or elevated IgM (HIGMX-1). Immun. Rev. 138: 87-104, 1994.
MEDLINE UID : 94350375

31. Rosen, F. S. : Personal Communication. Boston, Mass., 8/23/1973.

32. Rosen, F. S. :
Immunodeficiency. In: Benacerraf, B. :
Immunogenetics and Immunodeficiency. Baltimore: University Park Press (pub.) 1975. Pp. 229-257.

33. Thomas, C.; de Saint Basile, G.; Le Deist, F.; Theophile, D.; Benkerrou, M.; Haddad, E.; Blanche, S.; Fischer, A. :
Brief report: correction of X-linked hyper-IgM syndrome by allogenic bone marrow transplantation. New Eng. J. Med. 333: 426-429, 1995.
MEDLINE UID : 95342194



Last modified 13/Jun/2001 by ELG

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