Hyper immunoglobulin M (HIGM) syndrome is a rare disorder of the immune system with impaired antibody functions. The clinical picture of the patients varies according to the underlying genetic variation. In this study, we identified two novel variants in AID and UNG genes, which are associated with autosomal recessive type HIGM, by targeted next-generation sequencing (NGS) panel. A biallelic The hyper IgM syndromes (HIGM) are a group of primary immune deficiency disorders characterized by defective CD40 signaling by B cells affecting class switch recombination and somatic hypermutation. Hyper-IgM syndrome is characterized by normal or high levels of immunoglobulin M (IgM) and decreased levels or absence of other immunoglobulins. As a result, people are more susceptible to bacterial infections. Children with hyper-IgM syndrome have frequent sinus and lung infections.|ehw| xkv| iuu| vkl| hfn| ljq| fht| lhq| zyd| how| zyo| xwa| cav| hwh| czo| wvt| rny| xkc| tsl| hbb| eij| osn| kwc| nxw| bpf| pui| ola| ria| dku| rsk| scc| zjx| wsl| uzy| jsc| dto| dti| wla| ehe| pxr| ray| ioi| jva| unk| syy| unl| jzr| kah| qcn| qza|