Open AccessGene analysis of seven cases of primary immunodeficiency
Author(s) -
Zhu Ying,
Li Li,
Guoshun Mao,
Lei Zhang,
Jing Wang,
Nannan Li
Publication year - 2020
Publication title -
translational pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 13
eISSN - 2224-4344
pISSN - 2224-4336
DOI - 10.21037/tp.2020.03.07
Subject(s) - primary immunodeficiency , mutation , medicine , gene , bruton's tyrosine kinase , gene mutation , splice site mutation , genetics , immunodeficiency , immune system , immunology , biology , rna splicing , rna , receptor , tyrosine kinase
Primary immune deficiency diseases (PID) are a group of potentially serious disorders in which inherited defects in the immune system lead to increased infections. This paper explores the clinical characteristics and pathogenic gene mutation of PID.