Identification of a novel NFKB2 mutation in a patient presenting with autoimmune cytopenia and generalized granulomatous lymphadenopathy

Abstract

Introduction: NF-κB proteins are transcription factors that modulate various functions of the immune system. NF-κB2 (or p100/p52) has particularly important roles in B cell development and function. Primary immunodeficiency due to mutations in the NF-κB2 gene range from combined immunodeficiency with susceptibility to viral or opportunistic infections to a primarily antibody deficiency. Methods: We investigated a 19-year-old male with multiple autoimmune cytopenia resistant to treatment and generalized granulomatous lymphadenopathy. Results: We identified a novel pathogenic variant in NF-κB2 via whole exome sequencing c.1700C>T (p.A567V) that is the cause of our patient’s presentation. Conclusion: We present a novel pathogenic variant in NF-κB2 with an unusual presentation that furthers our understanding of this disease.