| Literature DB >> 35284991 |
Faranaz Atschekzei1, Gesine Schürmann2.
Abstract
In the last 10 years there has been enormous progress in the field of inborn errors of immunity (IEI). The number of newly discovered diseases is growing exponentially, including not only rare but also frequent genetic defects. The spectrum of clinical phenotypes ascribed to IEI is also rapidly expanding. There is every reason to assume that this is only the tip of the iceberg and in the near future further IEI will be discovered with the help of genetic and immunological studies. Patients will benefit from the timely diagnostics as well as from the individualized treatment.Entities:
Keywords: Gain of function; Genotype; Immune dysregulation; Inborn errors of immunity; International Union of Immunological Societies (IUIS) Expert Committee; Loss of function; Monogenic immune defects; Phenotype
Mesh:
Year: 2022 PMID: 35284991 DOI: 10.1007/s00393-022-01183-8
Source DB: PubMed Journal: Z Rheumatol ISSN: 0340-1855 Impact factor: 1.372