Novel Genetic Variant Identified in CARMIL2 Deficiency
Novel Genetic Variant Identified in CARMIL2 Deficiency https://pediatricsnationwide.org/wp-content/uploads/2021/02/AdobeStock_134232290-DNA-header-1024x575.gif 1024 575 Lauren Dembeck https://pediatricsnationwide.org/wp-content/uploads/2021/03/Dembeck_headshot.gif
International 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…