Whole exome sequencing data from 13 patients with suspicious Inborn errors of Immunity (IEI) manifestation

Whole exome sequencing data from 13 patients with suspicious Inborn errors of Immunity (IEI) manifestation.All patients were sampled South east of Brazil (Rio de Janeiro state) in the public Unified Health System (SUS).Whereas the cohort includes individuals clinically symptomatic for monogenic IEI disorders, we performed a selection of rare pathogenic/likely pathogenic variants to understand the genetic association with the IEI-phenotypes. Genetic screening in our cohort revealed the presence of 16 SNVs causing or mimicking IEI disorders overlapping nine genes, of which seven were well characterized to cause IEI, including BTK, CD40LG, CARD11, WAS, CYBB, C6 and LRBA.