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 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.
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Published In
LymphoSign Journal
Volume 10 • Number 1 • March 2023
Pages: 7 - 14
History
Received: 13 February 2023
Accepted: 2 March 2023
Accepted manuscript online: 8 March 2023
Version of record online: 20 April 2023
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© 2023.
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AbdulrahmanAl Ghamdi, MarinaSham, LauraAbrego Fuentes, and LindaVong. 2023. Identification of a novel NFKB2 mutation in a patient presenting with autoimmune cytopenia and generalized granulomatous lymphadenopathy. LymphoSign Journal.
10(1): 7-14. https://doi.org/10.14785/lymphosign-2023-0001
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