Literature DB >> 35284991

[Genetics of inborn errors of immunity].

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.
© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.

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


  2 in total

1.  [Agammaglobulinemia & alymphocytosis with atrophy of lymphatic tissue].

Authors:  W H HITZIG; Z BIRO; H BOSCH; H J HUSER
Journal:  Helv Paediatr Acta       Date:  1958-12

Review 2.  Human inborn errors of immunity: An expanding universe.

Authors:  Luigi D Notarangelo; Rosa Bacchetta; Jean-Laurent Casanova; Helen C Su
Journal:  Sci Immunol       Date:  2020-07-10
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.