Keeping up with recent developments in immunodeficiency

doi:10.1016/j.anai.2024.12.016

2024-12-01

PRE

Michael Tsoulis

Kelli W. Williams *

DOI：10.1016/j.anai.2024.12.016

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摘要

En 中文

免疫缺陷病（IEIs）是一类快速增长的遗传性单基因疾病，影响免疫系统。基因检测和功能验证研究的进展加速了IEI基因的发现和疾病机制的揭示，尤其是在过去5年内。为跟上这一快速发展，国际免疫学会联盟专家委员会自1999年起定期发布更新的IEI分类及其相应的基因型和表型目录，最近一次更新于2022年。目前，在10个主要分类组中已描述超过485种免疫系统的单基因疾病。本文回顾了IEI的临床新进展，包括对一些近期描述的IEI疾病的深入探讨。特别是，我们重点介绍了具有以下临床表型的IEI疾病：严重过敏、免疫缺陷伴免疫失调、免疫失调伴淋巴增生、自身炎症和先天表型。为帮助临床医生，我们还提供了在怀疑IEI时的诊断方法，并讨论了管理和治疗。© 2024美国过敏、哮喘与免疫学会。由Elsevier公司出版。版权所有，包括文本和数据挖掘、AI训练及类似技术的权利。

Keyword:

IUIS PHENOTYPIC CLASSIFICATION

BONE-MARROW-TRANSPLANTATION

INBORN-ERRORS

INCIDENTAL FINDINGS

DIAGNOSIS

IMMUNITY

MANAGEMENT

MUTATIONS

RESPONSES

DISEASES

期刊

Annals of Allergy Asthma and Immunology

IF:

4.7

论文数:

281

被引数:

1.0W

机构

Med Univ South Carolina

学者数:

726

论文数: 585

被引数: 86

Geisel Sch Med Dartmouth

学者数:

144

论文数: 69

被引数: 21

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