Serine/Threonine Kinase 4 Deficiency Caused by a Potential Novel c.248del, p.Pro83Leufs∗3 Mutation: A Case Report
Background Serine/threonine kinase 4 (STK4) deficiency is one of the rare causes of combined immunodeficiency (CID). In this study, we report a novel mutation causing STK4 deficiency, which presents with chronic pyelonephritis, an uncommon presentation. Case Presentation A 10‐year‐old female with an incidental mass in...