别名 Autosomal recessive hyper-IgE (immunoglobulin E) syndrome due to TYK2 deficiency、Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency、HIES WITH ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE + [13] |
简介 A rare primary immunodeficiency with characteristics of increased susceptibility to intracellular bacterial and viral infection, with or without increased serum immunoglobulin E. Clinical manifestations are highly variable, depending on the infection type and location, and can include recurrent otitis, sinusitis, pulmonary and cutaneous infections, meningitis and internal abscesses. |
开始日期2020-05-05 |
申办/合作机构 |