A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

Abstract

We report a novel primary immunodeficiency, and a differential molecular diagnosis to <i>CXCR4-</i>,<i>DOCK8-</i>,<i>GATA2-</i>,<i>MAGT1-</i>,<i>MCM4-</i>,<i>STK4-</i>,<i>RHOH-</i>,<i>TMC6-,</i> and <i>TMC8-</i>related diseases. The specific variant may represent a Norwegian founder variant segregating on a population-specific haplotype.