Novel Genetic Variant Identified in CARMIL2 Deficiency
Novel Genetic Variant Identified in CARMIL2 Deficiency https://pediatricsnationwide.org/wp-content/themes/corpus/images/empty/thumbnail.jpg 150 150 Lauren Dembeck https://pediatricsnationwide.org/wp-content/uploads/2021/03/Dembeck_headshot.gifInternational program facilitates the diagnosis of a rare immunodeficiency in two children caused by a novel genetic variant. A multidisciplinary team of physicians and scientists at Nationwide Children’s Hospital have identified a novel loss-of-function variant causing CARMIL2 deficiency, an inborn error of immunity, in two Saudi Arabian brothers born to consanguineous parents. The case was…