Table 1 |
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|
Main characteristics of immunoglobulin class-switch recombination deficiencies |
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|
Defect |
Relative frequency, percentage |
Transmission |
CD27+ B cells |
Somatic hypermutation |
Complications |
|
|
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|
Defect in T cell-B cell cooperation |
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|
CD40L |
47 |
X-L |
Decreased |
Decreased |
Opportunistic infections, liver damage |
|
CD40 |
3 |
AR |
Decreased |
Decreased |
Opportunistic infections, liver damage |
|
NEMOa |
1 |
X-L |
N or decreased |
N or decreased |
Opportunistic infections |
|
TFH defect? |
10 |
? |
N |
N |
Auto-immunity |
|
Intrinsic B-cell defect |
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|
AID |
10 |
AR |
N |
Absent |
Lymphadenopathies, auto-immunity |
|
AID co-factor? |
12 |
? |
N |
N |
Lymphadenopathies, auto-immunity |
|
DNA repair defect |
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|
Uracil-N-glycosylase |
1 |
AR |
N |
N (skewed pattern) |
Auto-immunity, B lymphomas |
|
Part of a known repair defect: PMS2a |
2 |
AR |
Decreased |
N |
Cancers |
|
Ataxia telangiectasiaa |
2 |
AR |
N |
N |
Lymphomas, neurological deterioration |
|
DNA repair? |
11 |
AR |
Decreased |
Decreased |
Auto-immunity, B lymphomas, leukemias |
|
|
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|
aFrequency could be underestimated because it was sequenced only in patients with obvious symptoms. AID, activation-induced cytidine deaminase; N, normal; NEMO, nuclear factor-kappa-B essential modulator; PMS2, post-meiotic segregation 2; Tfh, T follicular helper. |
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|
Durandy and Kracker Arthritis Research & Therapy 2012 14:218 doi:10.1186/ar3904 |
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