Human genetic defects in class-switch recombination (hyper-IgM syndromes)

Current Opinion in Immunology

Volumn 13, Issue 5, 2001, Pages 543-548

  Durandy, Anne ^a   Honjo, Tasuku ^b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b KYOTO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATION INDUCED CYTIDINE DEAMINASE; CD27 ANTIGEN; CD38 ANTIGEN; CD40 ANTIGEN; COMPLEMENTARY DNA; CYTIDINE DEAMINASE; DOUBLE STRANDED DNA; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G ANTIBODY; IMMUNOGLOBULIN M; IMMUNOGLOBULIN M ANTIBODY; LIGAND; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

B LYMPHOCYTE DIFFERENTIATION; DEAMINATION; DNA STRAND BREAKAGE; ECTODERMAL DYSPLASIA; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC RECOMBINATION; HUMAN; HYPERIMMUNOGLOBULINEMIA; HYPERIMMUNOGLOBULINEMIA M; IMMUNOGLOBULIN BLOOD LEVEL; MOLECULAR CLONING; OPEN READING FRAME; PHENOTYPE; PROTEIN DEFICIENCY; PROTEIN DOMAIN; REVIEW; SEQUENCE HOMOLOGY;

EID: 0035480006     PISSN: 09527915     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0952-7915(00)00256-9     Document Type: Review

References (53)

1. Linking class-switch recombination with somatic hypermutation
2. Cis-acting sequences that affect somatic hypermutation of Ig genes
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4. The CD40 ligand, gp39, is defective in activated T-cells from patients with X-linked hyper-IgM syndrome
5. CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
6. Defective expression of the CD40 ligand in X chromosome-linked immunoglobulin deficiency with normal or elevated IgM
7. Defective expression of CD40 ligand on T-cells causes 'X-linkedimmunodeficiency with hyper-IgM (HIGM1)'
8. Immunodeficiency with hyper-IgM (HIM)
9. Cross-linking CD40 on B-cells rapidly activates nuclear factor-κB
10. CD40-CD40L independent Ig gene hypermutation suggests a second B-cell diversification pathway in humans
11. B-cell subsets and the mature preimmune repertoire. Marginal zone and B1 B-cells as part of a 'natural immune memory'
12. T-independent immune response: New aspects of B-cell biology
13. CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization
14. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)
15. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
16. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-κB signaling
17. NF-κB and Rel proteins: Evolutionarily conserved mediators of immune responses
18. A ubiquitin ligase complex essential for the NF-κB, Wnt/wingless, and Hedgehog signaling pathways
19. TTRAP, a novel protein that associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor-associated factors (TRAFs), and that inhibits nuclear factor-κB activation
20. Requirement for NF-κB in osteoclast and B-cell development
21. CD40 ligand (CD40L) expression and B-cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). Comparison of X-linked, autosomal recessive, and non-X-linked forms of the disease, and obligate carriers
22. Abnormal CD40-mediated activation pathway in B-lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression
23. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)
24. Germinal center founder cells display propensity for apoptosis before onset of somatic mutation
25. Isolation, tissue distribution and chromosomal localization of the human activation-Induced cytidine deaminase (hAID) gene
26. Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme
27. Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B-cells
28. The p27 catalytic subunit of the apolipoprotein B mRNA editing enzyme is a cytidine deaminase
29. Molecular cloning of an apolipoprotein B-messenger RNA editing protein
30. Molecular cloning of apobec-1 complementation factor, a novel RNA-binding protein involved in the editing of apolipoprotein B mRNA
31. Frequent but biased class switch recombination in the Sμ flanking regions
32. Asymmetric mutation around the recombination break point of immunoglobulin class switch sequences on extrachromosomal substrates
33. Processing of switch transcripts is required for targeting of antibody class switch recombination
34. Somatic hypermutation, transcription, and DNA mismatch repair
35. DNA double-strand breaks in immunoglobulin genes undergoing somatic hypermutation
36. Cell-cycle-regulated DNA double stranded breaks in somatic hypermutation of immunoglobulin genes
37. Hypermutation in antibody affinity maturation
38. The SCID but not the RAG-2 gene product is required for Sμ-Sε heavy chain class switching
39. Ku80 is required for immunoglobulin isotype switching
40. Somatic hypermutation in the absence of DNA-dependent protein kinase catalytic subunit (DNA-PK(cs)) or recombination-activating gene (RAG)1 activity
41. Mismatch repair coopted by hypermutation
42. The liaison of isotype class switch and mismatch repair: An illegitimate affair
43. Reduced isotype switching in splenic B-cells from mice deficient in mismatch repair enzymes
44. Deficiency in Msh2 affects the efficiency and local sequence specificity of immunoglobulin class-switch recombination: Parallels with somatic hypermutation
45. Roles for mismatch repair factors in regulating genetic recombination
46. Transcription-induced cleavage of immunoglobulin switch regions by nucleotide excision repair nucleases in vitro
47. Misinsertion and bypass of thymine-thymine dimers by human DNA polymerase iota
48. DNA polymerase μ(Polμ), homologous to TdT, could act as a DNA mutator in eukaryotic cells
49. The translesion DNA polymerase zeta plays a major role in Ig and bcl-6 somatic hypermutation
50. DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes
51. Somatic mutation hotspots correlate with DNA polymerase eta error spectrum
52. Towards an understanding of somatic hypermutation
53. Mutations in activation-induced cytidine deaminase in patients with hyper IgM syndrome