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GENATLAS PHENOTYPE
last update : 22-07-2009
Symbol HIGM4
Location 12q23q24.1
Name immunodeficiency with hyper IgM
Corresponding gene UNG
Other symbol(s) HIGM5
Main clinical features recurrent upper and lower respiratory tract and gastrointestinal infections
Genetic determination autosomal recessive
Function/system disorder defense and immunity
Type disease
Remark(s) recessive mutations associated with profound impairment in immunoglobulin (Ig) class-switch recombination (CSR) at a DNA precleavage step and with a partial disturbance of the somatic hypermutation (SHM) generation in three patients with hyper-IgM syndrome