Table 1

Main characteristics of immunoglobulin class-switch recombination deficiencies

Defect

Relative frequency, percentage

Transmission

CD27+ B cells

Somatic hypermutation

Complications


Defect in T cell-B cell cooperation

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

AID

10

AR

N

Absent

Lymphadenopathies, auto-immunity

AID co-factor?

12

?

N

N

Lymphadenopathies, auto-immunity

DNA repair defect

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


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.

Durandy and Kracker Arthritis Research & Therapy 2012 14:218   doi:10.1186/ar3904