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Endocrine, Metabolic & Immune Disorders - Drug Targets

Editor-in-Chief

ISSN (Print): 1871-5303
ISSN (Online): 2212-3873

Case Report

Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient

Author(s): Khashayar Danandeh, Parnian Jabbari, Elham Rayzan, Samaneh Zoghi, Sepideh Shahkarami, Raul Jimenez Heredia, Ana Krolo, Bibi Shahin Shamsian, Kaan Boztug and Nima Rezaei*

Volume 22, Issue 10, 2022

Published on: 30 June, 2022

Page: [1040 - 1046] Pages: 7

DOI: 10.2174/1871530322666220407091356

Price: $65

Abstract

Background: Lymphoproliferative disorders include a heterogeneous list of conditions that commonly involve dysregulation of lymphocyte proliferation resulting in lymphadenopathy and bone marrow infiltration. These disorders have various presentations, most notably autoimmune manifestations, organomegaly, lymphadenopathy, dysgammaglobulinemia, and increased risk of chronic infections.

Case Presentation: A young boy presented with symptoms overlapping different lymphoproliferative disorders, including episodes of chronic respiratory tract infections, dysgammaglobulinemia, lymphadenopathy-associated with splenomegaly as well as skin rashes. Genetic studies revealed multiple heterozygous variants, including a novel mutation in the NFκB1 gene.

Conclusion: This novel mutation can reveal new aspects in the pathogenesis of lymphoproliferative disorders and propose new treatments for them.

Keywords: Lymphoproliferative disorder, immunology, NFkB1, case report, autoimmune lymphoproliferative disorder, mutation, bone marrow infiltration.

Graphical Abstract

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