Hyper-IgM-Syndrom 1 ist eine x-chromosomal rezessive Erkrankung die durch Mutationen im CD40LG-Gen hervorgerufen wird. Klinisch ist sie charakterisiert durch erhöhtes Immunglobulin IgM und eine Infektanfälligkeit.
Hyper-IgM-Syndrom | ||||
Hyper-IgM-Syndrom 1 | ||||
CD40LG | ||||
Hyper-IgM-Syndrom 2 | ||||
Hyper-IgM-Syndrom 3 | ||||
Hyper-IgM-Syndrom 4 | ||||
Hyper-IgM-Syndrom 5 | ||||
1. |
GLEICH GJ et al. (1965) DYSGAMMAGLOBULINEMIA IN THE PRESENCE OF PLASMA CELLS. |
2. |
Xu J et al. (1994) Mice deficient for the CD40 ligand. |
3. |
None (1994) X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome. |
4. |
Hayward AR et al. (1997) Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. |
5. |
Levy J et al. (1997) Clinical spectrum of X-linked hyper-IgM syndrome. |
6. |
Cunningham CK et al. (1999) Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome. |
7. |
Hadzić N et al. (2000) Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. |
8. |
Gennery AR et al. (2000) T-cell-depleted bone marrow transplantation from unrelated donor for [correction of allogeneic sibling for] X-linked hyperimmunoglobulin M syndrome. |
9. |
André P et al. (2002) CD40L stabilizes arterial thrombi by a beta3 integrin--dependent mechanism. |
10. |
Fuleihan R et al. (1993) Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM. |
11. |
JAMIESON WM et al. (1962) A family with several cases of hypogammaglobulinaemia. |
12. |
Aschermann Z et al. (2007) X-linked hyper-IgM syndrome associated with a rapid course of multifocal leukoencephalopathy. |
13. |
Hasegawa S et al. (2014) Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. |
14. |
Kyong CU et al. (1978) X-linked immunodeficiency with increased IgM: clinical, ethnic, and immunologic heterogeneity. |
15. |
Notarangelo LD et al. (1992) Immunodeficiency with hyper-IgM (HIM). |
16. |
Notarangelo LD et al. (1991) Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages. |
17. |
Hendriks RW et al. (1990) Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact. |
18. |
Mensink EJ et al. (1987) X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. |
19. |
Graf D et al. (1992) Cloning of TRAP, a ligand for CD40 on human T cells. |
20. |
Aruffo A et al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. |
21. |
Korthäuer U et al. (1993) Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. |
22. |
Allen RC et al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. |
23. |
Kroczek RA et al. (1994) Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". |
24. |
Pilia G et al. (1994) Human CD40L gene maps between DXS144E and DXS300 in Xq26. |
25. |
Padayachee M et al. (1993) Mapping of the X linked form of hyper IgM syndrome (HIGM1) |
26. |
Lin Q et al. (1996) A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. |
27. |
Bossaller L et al. (2006) ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. |
28. |
Kraakman ME et al. (1995) Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M. |
29. |
Padayachee M et al. (1992) Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. |
30. |
Mayer L et al. (1986) Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. |
31. |
Cooper MD et al. (1974) Meeting report of the Second International Workshop on Primary Immunodeficiency Disease in Man held in St. Petersburg, Florida, February, 1973. |
32. |
Fudenberg HH et al. (1970) Classification of the primary immune deficiencies: WHO recommendation. |
33. |
Brahmi Z et al. (1983) Immunologic studies of three family members with the immunodeficiency with hyper-IgM syndrome. |
34. |
Levitt D et al. (1983) Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching. |
35. |
Hollenbaugh D et al. (1994) 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. |
36. |
Thomas C et al. (1995) Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. |
37. |
OMIM.ORG article Omim 308230 |