Unveiling a novel NBAS mutation in common variable immunodeficiency: Expanding the genetic landscape of immunodeficiency disorders

Abstract

NBAS, neuroblastoma-amplified sequence, mutations have been linked to multisystem disorders, including immunodeficiency. Common variable immunodeficiency (CVID) represents a heterogeneous group of primary immunodeficiency disorders characterized by hypogammaglobulinemia, lack of functional antibodies, and frequent sinopulmonary or gastrointestinal infections. The exact cause of CVID is often unknown; however, recent studies using gene sequencing have identified disease-causing genes underlying this heterogeneous immune defect. Here, we present a case of a novel NBAS mutation identified in a patient with CVID, revealing the genetic basis of immunodeficiency disorders and emphasizing the importance of comprehensive genetic analysis in clinical practice. This case underscores the need for further investigation into the functional consequences of NBAS mutations and their implications for the management of CVID and related immune conditions.