Abstract
Recalcitrant warts (RW), caused by human papillomaviruses (HPVs), can be a cutaneous manifestation of inborn error of immunity. This study investigated the clinical manifestations, immunodeficiency, single-gene susceptibility, and HPV repertoire in a consanguineous family with severe sinopulmonary infections and RWs. Clinical and immunological evaluations, including fluorescence-activated cell-sorting and lymphocyte-transformation test, provided evidence for immunodeficiency. Combined whole-exome sequencing and genome-wide homozygosity mapping was utilized to disclose candidate sequence variants.
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