Novel NFkB mutation in a case of lymphoproliferative disorder case report

Background: Lymphoproliferative disorders include a heterogeneous list of disorders 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 NFκB1 gene. Conclusion: This novel mutation can reveal new aspects in the pathogenesis of lymphoproliferative disorders and propose new treatments for them.