Novel Genetic Discoveries in Primary Immunodeficiency Disorders

被引：15

作者：

Redmond, Margaret T. ^{[1
]}

Scherzer, Rebecca ^{[1
]}

Prince, Benjamin T. ^{[1
]}

机构：

[1] Ohio State Univ, Coll Med, Div Allergy & Immunol, Dept Pediat,Nationwide Childrens Hosp, Columbus, OH 43210 USA

来源：

CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY | 2022年 / 63卷 / 01期

关键词：

Inborn errors of immunity; Immune dysregulation; Genetics; Genetic testing; EXOCRINE PANCREATIC INSUFFICIENCY; ONSET COMBINED IMMUNODEFICIENCY; INBORN-ERRORS; AUTOINFLAMMATORY DISEASE; IMMUNE DYSREGULATION; HOMOZYGOUS MUTATION; T-CELLS; DEFICIENCY; HUMANS; CDC42;

D O I：

10.1007/s12016-021-08881-2

中图分类号：

R392 [医学免疫学];

学科分类号：

100102 ;

摘要：

The field of Immunology is one that has undergone great expansion in recent years. With the advent of new diagnostic modalities including a variety of genetic tests (discussed elsewhere in this journal), the ability to diagnose a patient with a primary immunodeficiency disorder (PIDD) has become a more streamlined process. With increased availability of genetic testing for those with suspected or known PIDD, there has been a significant increase in the number of genes associated with this group of disorders. This is of great importance as a misdiagnosis of these rare diseases can lead to a delay in what can be critical treatment options. At times, those options can include life-saving medications or procedures. Presentation of patients with PIDD can vary greatly based on the specific genetic defect and the part(s) of the immune system that is affected by the variation. PIDD disorders lead to varying levels of increased risk of infection ranging from a mild increase such as with selective IgA deficiency to a profound risk with severe combined immunodeficiency. These diseases can also cause a variety of other clinical findings including autoimmunity and gastrointestinal disease.

引用

页码：55 / 74

页数：20

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