Whole exome sequencing of a pediatric patient with IPEX-like phenotype carrying a hemizygous DOCK11 variant
This study reports whole exome sequencing data from a six-year-old male patient with an IPEX-like immune dysregulation phenotype. The patient presented with early-onset nephrotic syndrome, enteropathy, type 1 diabetes mellitus, recurrent infections, and an intracardiac thrombus. Whole exome sequencing identified a hemizygous DOCK11 variant (NM_144658.3:c.731T>C; p.Met244Thr) at chromosome X:117700005, classified as a variant of uncertain significance according to ACMG criteria.
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