Primary immunodeficiency disease due to genetic gain of-function mutation
YANG Jun
HE Ting-yan
Abstract：Autosomal recessive (AR) and X-linked recessive (XR) primary immunodeficiencies (PIDs) are mainly caused by alleles with some loss-of-function (LOF).Alleles with LOF can lead to defects of mRNA or protein expressions.The autosomal dominant (AD) PIDs can be caused by LOF alleles,What's more,the AD disorders can be also due to gene mutations of gain-of-function (GOF),Most heterozygous GOF alleles can lead to enhancement of gene function or abnormal activation of expression products,resulting in related clinical symptoms.Up to 18 AD PIDs have been described with a wide range of immunological and clinical forms.Auto-inflammation and auto-immunity are found to be most common.Other clinical manifestations include infections,allergies or malignancies.
Keywords：immunodeficiencygene mutationgain-of-function mutationloss-of-function mutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 515-521 )