Macroglobulinemia and Autoinflammatory Disease.

ABSTRACT: Macroglobulinemia is associated with Schnitzler syndrome (SchS) and Waldenstrom macroglobulinemia (WM). The aim of this article was to review the above-mentioned two diseases from clinical aspects and their potential genetic links. We performed a PubMed search using the following keywords: "SchS," "WM," "autoinflammatory disease," "periodic fever syndrome," and "nucleotide-binding oligomerization domain containing protein 2 (NOD2)." A case is exemplified. Both SchS and WM share some clinical phenotypes, and SchS can evolve into WM. Though no genetic link to SchS has been established, myeloid differentiation primary response gene 88 (MyD88) mutations are detected in one-third of SchS patients and 86% WM patients. Genetic analysis of periodic fever syndrome genes has detected NOD2 mutations

SUBMITTER: Navetta-Modrov B 

PROVIDER: S-EPMC9524799 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature