X-linked hyper-IgM syndrome
XHIGM
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
encapsulated bacteria
P. carinii
Herpes virus family (including cytomegalovirus)
Cryptosporidium
- Cryptosporidium-associated sclerosing cholangitis
Cryptococcus
Candida
Histoplasma
Bartonella
cutaneous sarcoid-like granulomas (14871324)
Etiology
mutations in the gene encoding CD40 ligand