In:
Endocrine, Metabolic & Immune Disorders - Drug Targets, Bentham Science Publishers Ltd., Vol. 22, No. 10 ( 2022-09), p. 1040-1046
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
1871-5303
DOI:
10.2174/1871530322666220407091356
Language:
English
Publisher:
Bentham Science Publishers Ltd.
Publication Date:
2022
Bookmarklink