Hyper-IgM syndrome is a group of disorders characterized by elevated levels of the immunoglobulin IgM. The common cause is a defect in immunoglobulin isotype switching to the more specific and efficient immunoglobulins IgA, IgG, and IgE. Clinically the patients are characterized by increased susceptibility to infections.
Immunoglobulin disorders | |||||
Agammaglobulinemia, X-linked | |||||
Hyper-IgM syndrome | |||||
Hyper-IgM syndrome 1 | |||||
CD40LG | |||||
Hyper-IgM syndrome 2 | |||||
AICDA | |||||
Hyper-IgM syndrome 3 | |||||
CD40 | |||||
Hyper-IgM syndrome 4 | |||||
Hyper-IgM syndrome 5 | |||||
UNG | |||||
1. |
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3. |
Levitt D et al. (1983) Hyper IgM immunodeficiency. A primary dysfunction of B lymphocyte isotype switching. |
4. |
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. |
5. |
Thomas C et al. (1995) Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. |
6. |
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7. |
Xu J et al. (1994) Mice deficient for the CD40 ligand. |
8. |
None (1994) X inactivation and immunocompetence in female carriers of the X-linked hyper-IgM syndrome. |
9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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17. |
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20. |
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21. |
Ferrari S et al. (2001) Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. |
22. |
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23. |
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24. |
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25. |
Aruffo A et al. (1993) The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. |
26. |
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27. |
Allen RC et al. (1993) CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. |
28. |
Kroczek RA et al. (1994) Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". |
29. |
Pilia G et al. (1994) Human CD40L gene maps between DXS144E and DXS300 in Xq26. |
30. |
Padayachee M et al. (1993) Mapping of the X linked form of hyper IgM syndrome (HIGM1) |
31. |
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. |
32. |
Bossaller L et al. (2006) ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells. |
33. |
Revy P et al. (1998) Normal CD40-mediated activation of monocytes and dendritic cells from patients with hyper-IgM syndrome due to a CD40 pathway defect in B cells. |
34. |
Kutukculer N et al. (2003) Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency. |
35. |
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36. |
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37. |
OMIM.ORG article Omim 308230 |
38. |
Orphanet article Orphanet ID 101088 |
39. |
Wikipedia article Wikipedia EN (Hyper_IgM_syndrome) |