Genetics of inborn errors of immunity

被引：0

作者：

Atschekzei, Faranaz ^{[1
]}

Schuermann, Gesine ^{[1
]}

机构：

[1] Hannover Med Sch, Klin Rheumatol & Immunol, Carl Neuberg Str 1, D-30625 Hannover, Germany

来源：

ZEITSCHRIFT FUR RHEUMATOLOGIE | 2022年 / 81卷 / 04期

关键词：

Inborn errors of immunity; Monogenic immune defects; Genotype; Phenotype; Gain of function; Loss of function; Immune dysregulation; International Union of Immunological Societies (IUIS) Expert Committee;

D O I：

10.1007/s00393-022-01183-8

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：328 / 331

页数：4

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