Novel pathological genetic variant associated with DOCK8 deficiency: case report with successful hematopoietic stem cell transplantation.

We report a 7-year-old girl who presented with refractory atopic dermatitis and recurrent sinopulmonary infections.

Whole exome sequencing identified a previously unreported homozygous nonsense mutation in the DOCK8 gene (c.5382C>A; p.

Functional validation was achieved through flow cytometry, which demonstrated significantly reduced DOCK8 protein expression.

The patient underwent successful hematopoietic stem cell transplantation from a fully matched (10/10) HLA-compatible donor following conditioning with fludarabine and treosulfan.