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Condition report · Immunological

Hyper-IgM Syndrome

Inherited conditions in which the immune system cannot switch from making IgM antibodies to IgG, IgA and IgE, so IgM is normal or high while other antibodies are low. The X-linked form (CD40LG) also weakens T-cell help and raises the risk of opportunistic infections and liver disease; other forms involve CD40, AICDA and UNG.

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What your report covers

The condition we analyse

Hyper-IgM syndrome

Defective antibody class switching caused by changes in CD40LG (X-linked), CD40, AICDA or UNG.

What a diagnosis changes

Immunoglobulin replacement is standard; CD40L and CD40 deficiency also need Pneumocystis prophylaxis, safe drinking water to prevent cryptosporidium and consideration of stem cell transplantation.

Genes analysed

Also known as

immunodeficiency with hyper-IgM

Includes 5 related subtypes ↓
  • hyper-IgM syndrome type 1
  • hyper-IgM syndrome type 2
  • hyper-IgM syndrome type 3
  • hyper-IgM syndrome type 4
  • hyper-IgM syndrome type 5
MONDO:0003947MedGen 124420

Other immunological conditions

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