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Macroglobulinemia and Autoinflammatory Disease

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,” “...

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Detalles Bibliográficos
Autores principales: Navetta-Modrov, Brianne, Yao, Qingping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524799/
https://www.ncbi.nlm.nih.gov/pubmed/36467983
http://dx.doi.org/10.2478/rir-2021-0031
Descripción
Sumario: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 in 18% SchS patients and rarely NLRP3 mutations. The literature data suggest that both MyD88 and NOD2 mutations may contribute to SchS. Both MyD88 and NOD2 are known to play important roles in innate immune response, and they may be cooperative in certain autoinflammatory diseases. Molecular analysis of NOD2 mutations may be incorporated into genetic testing for patients with suspected SchS or SchS/WM.