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

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 NFKB2 gene, encoding NF-κB2, range from combined immunodeficiency with susceptibility to viral or opportunistic infections to primarily antibody deficiency. Methods: A comprehensive chart review of our patient was performed. Results: Our patient, currently a 19-year-old male, presented with multiple autoimmune cytopenia resistant to treatment and generalized granulomatous lymphadenopathy. Whole exome sequencing identified a novel pathogenic variant in NFKB2 (c.1700C>T; p.A567V) that is the cause of our patient’s presentation. Conclusion: We present a novel pathogenic variant in NFKB2 with an unusual presentation. Statement of novelty: Here, we report a novel mutation in NFKB2 and the clinical presentation of the affected patient, which helps in further understanding the NF-κB2 pathway and its associated disease.