Progress on the early screening for primary immune deficiency disease
10.3760/cma.j.cn101070-20220428-00473
- VernacularTitle:原发性免疫缺陷病早期筛查技术进展
- Author:
Liangyan ZOU
1
;
Xiaochuan WANG
Author Information
1. 复旦大学附属儿科医院临床免疫科，上海 201102
- Keywords:
Primary immune deficiency disease;
Infant, newborn;
Screening;
T cell receptor excision circle;
Kappa recombining excision circle;
Gene sequencing
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(8):633-636
- CountryChina
- Language:Chinese
-
Abstract:
Primary immune deficiency disease (PID), caused by a single gene mutation, is caused by the abnormal number and function of immune cells and molecules.PID patients are prone to repeated infection, accompanied by allergy, autoimmunity, auto-inflammation and malignant diseases.The mortality and disability rates of PID are very high.Early diagnosis and treatment are helpful to improve the prognosis.At present, existing screening methods for PID include newborn screening for severe combined immunodeficiency disease using the T cell receptor excision circle assay, screening for agammaglobulinemia using the immunoglobulin Kappa recombining excision circle assay, screening for adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency using the tandem mass spectrometry, screening for specific protein defects using the proteomics, and screening for genetic variates using the next-generation sequencing.This review briefly summarized the current newborn screening technologies for PID, thus providing references for the development of screening PID in the future.
