Printable factfile
Defects in UNG are a cause of immunodeficiency with hyper-IgM type 5 syndrome (HIGM5). Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations. HIGM5 is associated with profound impairment in immunoglobulin (Ig) class-switch recombination (CSR) at a DNA precleavage step.
Alternative names
HIGM5
Hyper-IgM syndrome 5
Hyper-IgM syndrome, type 5
Uracil-DNA glycolase
Classification
- Deficiencies predominantly affecting antibody production
- Defects of class-switch recombination and somatic hypermutation (Hyper-IgM syndromes) affecting B cells
Inheritance
Autosomal recessive
Cross references
Phenotypically related immunodeficiencies
IDR factfile forX-linked hyper-IgM syndrome (CD40L deficiency)
IDR factfile for non hyper-IgM syndrome
IDR factfile for CD40 deficiency
IDR factfile for X-linked hyper-IgM syndrome and hypohydrotic ectodermal dysplasia
Incidence
Incidence is not known.