immunodeficiency with hyper-IgM type 1
MIM.308230 Xq26
The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function.
Synopsis
opportunistic infections
- pneumonia
- upper respiratory infections
- sinusitis
- recurrent otitis
- recurrent/protracted diarrhea
- central nervous system infections (14%),
- systemic sepsis
- osteomyelitis
most frequent infectious agents
- encapsulated bacteria
- Pneumocystis carinii
- Herpes virus family (including cytomegalovirus)
- Cryptosporidium sp. (Cryptosporidium-associated sclerosing cholangitis)
- Cryptococcus sp.
- Candida sp.
- Histoplasma sp.
- Bartonella sp.
cutaneous sarcoid-like granulomas (#14871324#)
Etiology
mutations in the gene encoding CD40 ligand - CD40LG (MIM.300386)
- X-linked hyper-IgM syndrome (HIGM1) is caused by mutation in the CD40LG gene (MIM.300386)