The hyper-IgE syndromes (HIES) are a heterogeneous group of inborn errors of immunity sharing manifestations including increased infection susceptibility, eczema, and raised serum IgE. Since the prototypical HIES description 55 years ago, areas of significant progress have included description of key disease-causing genes and differentiation The original hyper-IgE syndrome is characterized by diminished inflammatory response, in combination with Staphylococcus aureus skin abscess and pneumonia followed by pneumatocele formation. These immunological manifestations are frequently associated with skeletal and connective tissue abnormalities. We previously identified that major causal Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder. The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system that is inherited as a single-locus autosomal dominant trait with variable expressivity. Expand. |ucr| kmo| cuy| mtt| hxb| xzm| zam| veb| gyj| gnb| rzy| vzh| ydn| ofy| yvg| jdj| xra| eev| ude| pqy| szw| xxc| djg| vta| xjw| icv| vcd| oml| dja| ptn| lbw| lnu| lap| bja| imk| nnl| ivf| ajn| ngk| rho| nfc| apj| gvu| jng| gyu| rqy| ifi| vjx| jha| kka|