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Table 1 Main characteristics of immunoglobulin class-switch recombination deficiencies

From: 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
  1. 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.