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Characteristic features of genetically determined hyperimmunoglobulin M syndrome*

Characteristic features of genetically determined hyperimmunoglobulin M syndrome*
  Disease
CD40L deficiency (HIGM1) CD40 deficiency (HIGM3) AID deficiency (HIGM2) AID deficiency, C-terminus variant HIGM4 UNG deficiency (HIGM5)
Gene defect CD40LG CD40 AICDA AICDA Unknown UNG
Inheritance XL AR AR AD AR AR
Type of infections Bacterial, opportunisticΔ Bacterial, opportunisticΔ Bacterial Bacterial Bacterial Bacterial
Liver/biliary tract disease Yes Yes No No No No
Autoimmunity Yes, but rare No Yes Yes Yes Expected, but not reported
Lymphoid hyperplasia No No Yes Yes Yes Yes
Defect of CSR Yes Yes Yes Yes Yes Yes
Defect of SHM Yes Yes Yes No No Yes◊
Cellular defect T cells and B cells B cells, dendritic cells, monocytes B cells B cells B cells B cells
CD40L: CD40 ligand; HIGM: hyperimmunoglobulin M syndrome (hyper-IgM); AID: activation-induced cytidine deaminase; UNG: uracil N-glycosylase; XL: X-linked; AR: autosomal recessive; AD: autosomal dominant; CSR: class-switch recombination; SHM: somatic hypermutation.
* Hyper-IgM syndrome may also occur in some patients with post-meiotic segregation increased 2 protein (PMS2) deficiency, NF-kappa-B essential modifier (NEMO) deficiency, ataxia-telangiectasia, or Nijmegen breakage syndrome.
¶ Recurrent sinopulmonary infections are primarily caused by encapsulated bacteria (eg, Streptococcus pneumoniae and Haemophilus influenzae).
Δ Opportunistic infections are primarily caused by Pneumocystis, Cryptosporidium, and Histoplasma organisms.
◊ Biased pattern of somatic hypermutation, in which mutations at deoxycytocine (dC)/deoxyguanine (dG) pairs are almost all transitions (G>A and C>T).
Graphic 86094 Version 5.0