Nucleotide metabolism disorders
Gene: UNG
Imai et al. (2003) studied 3 unrelated patients from France and Japan with a phenotype resembling HIGM2, including susceptibility to bacterial infections, lymphoid hyperplasia, increased serum IgM concentrations, and profoundly decreased serum IgG and IgA concentrations, but with no mutations in the AICDA gene (605257). As with AICDA deficiency, this form of HIGM, designated HIGM5, was characterized by defective cleavage of a targeted switch region. Patient B cells were incapable of CSR after activation with anti-CD40 (109535) or with soluble CD40LG (300386) plus IL4 (147780). The phenotype was similar to that observed in Ung -/- mice, although the CSR defect was more severe. All patients had normal T-cell numbers and functions and were successfully treated with intravenous immunoglobulin.Created: 21 Mar 2022, 4:44 a.m. | Last Modified: 21 Mar 2022, 4:44 a.m.
Panel Version: 0.11665
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency with hyper IgM, type 5, MIM#608106
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: UNG was added gene: UNG was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNG were set to 12958596; 23585684; 32135276 Phenotypes for gene: UNG were set to hyper-IgM syndrome type 5 MONDO:0011971; Disorders of ectonucleotide and nucleic acid metabolism