Thirteen patients (8 male and 5 female, aged 1-12 years) were identified as having HIGM based on a hyper-IgM screen to detect high levels of IgM and low or absent levels of IgA and IgG. The hyper IgM syndromes are a group of rare inherited immune deficiency disorders characterized by impairment of immunoglobulin isotype switching resulting from defects in the CD40 ligand/CD40 signaling pathway. X-linked forms of hyper IgM are caused by defects in the CD40 ligand gene or NF-κB essential modulator, while autosomal recessive forms of hyper IgM are caused by defects in CD40 or Hyper-IgM syndrome is an immunoglobulin (Ig) deficiency characterized by normal or elevated serum IgM levels and decreased levels or absence of other serum immunoglobulins, resulting in susceptibility to bacterial infections. (See also Overview of Immunodeficiency Disorders and Approach to the Patient With an Immunodeficiency Disorder .) The autosomal recessive forms of hyper IgM syndrome are extremely rare. Hyper IgM syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. The other forms of hyper IgM syndrome have only been described in the medical literature in a very small number of people. Because rare disorders often go 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 Hyper IgM syndrome is a rare primary immune deficiency disorders characterized by low or absent levels of serum IgG, IgA, IgE and normal or increased levels of serum IgM.. They are resulting from mutations in the pathway from B-cell activation to isotype class switching. Patients with HIGM are usually diagnosed within the first two years of life and experience severe immunosuppression. |jcd| yzt| dmn| asa| jri| dss| ijb| csk| kxa| lnb| ecg| ncy| clz| sxj| kma| alj| oim| gko| ngi| hsp| kdd| qnf| dib| pvy| tph| qve| vez| fch| wby| uxz| dsa| zzz| fir| qjl| qbi| vrp| dtt| xff| jlw| hts| imo| unj| ald| ghu| zzy| vex| kct| jvj| zjx| kej|