Case Report of a Novel Nfkb Mutation in a Lymphoproliferative Disorder Patient Publisher Pubmed



Danandeh K^{1, 2} ; Jabbari P^{2, 3} ; Rayzan E^{2, 3, 4} ; Zoghi S^{3, 5, 6, 7} ; Shahkarami S^{8, 9} ; Heredia RJ^{5, 6, 7, 10} ; Krolo A^{5, 6, 7} ; Shamsian BS¹¹ ; Boztug K^{5, 6, 7, 10} ; Rezaei N^{2, 3, 12}
Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2022

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. © 2022 Bentham Science Publishers.