Variable Clinical Presentation, Diagnostic and Treatment Challenges in a family with a novel variant of NFKB1

Introduction: Nuclear factor kappa B subunit 1 (NFKB1) gene plays an essential role in immune cell signaling. Heterozygous NFKB1 variants are the most common cause of Common Variable Deficiency (CVID). Patients are susceptible to recurrent infections and non-infectious complications often requiring immune modulation. Intrafamilial variability of clinical phenotypes causes challenges in diagnosis and determining personalized treatment strategies. We describe a family with a novel NFKB1 variant and challenges in diagnostic and treatment approaches.