Research Article

Clinical Features and Genetic Analysis of 20 Chinese Patients with X-Linked Hyper-IgM Syndrome

Table 6

Mutation types in CD40L gene.

ReportsYearNumber of mutationsMissense (%)Nonsense (%)Deletion (%)Insertion (%)Splice site (%)

This study20131931.610.536.810.510.5
Nonoyama et al. [18]19971330.823.123.1023.1
Seyama et al. [20]19982832.117.97.214.332.1
Lee et al. [32]20056118.024.621.311.524.6
Winkelstein et al. [17]20035422.218.524.111.124.1
CD40Lbase  [46]201122131.723.517.210.416.3
Cabral-Marques et al. [19]20142634.626.911.57.711.5