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

Danandeh, Khashayar; Jabbari, Parnian; Rayzan, Elham; Zoghi, Samaneh; Shahkarami, Sepideh; Heredia, Raul Jimenez; Krolo, Ana; Shamsian, Bibi Shahin; Boztug, Kaan und Rezaei, Nima (2022): Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient. In: Endocrine Metabolic & Immune Disorders - Drug Targets, Bd. 22, Nr. 10: S. 1040-1046

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 NF kappa B1 gene. Conclusion: This novel mutation can reveal new aspects in the pathogenesis of lymphoproliferative disorders and propose new treatments for them.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 1871-5303
• Sprache: Englisch