Scholarlink

Background <p>Multisystem inflammatory syndrome in children (MIS-C) is a post-infectious hyperinflammatory condition that develops after SARS-CoV-2 infection and may involve multiple organ systems, including the cardiovascular, hematologic, neurologic, and gastrointestinal systems. Because MIS-C is characterized by immune dysregulation, genetic factors affecting inflammasome pathways may contribute to disease susceptibility or phenotypic variation.</p> Objective <p>To evaluate the frequency of MEFV gene variants in children with MIS-C and to assess their association with disease severity, laboratory findings, and different clinical manifestations.</p> Methods <p>This study included 98 children diagnosed with MIS-C. All patients were evaluated for MEFV gene variants. Variant frequencies were determined, and associations between MEFV mutation status and disease severity, laboratory parameters, and clinical manifestations were analyzed using the Chi-square test.</p> Results <p>Most patients had no detectable MEFV mutation (81/98, 82.7%), while 17.3% carried at least one variant. The most frequent variant was heterozygous E148Q (7.1%), followed by heterozygous V726A (2.0%), homozygous M694I (2.0%), heterozygous compound E148Q &amp; P369S (3.1%), heterozygous compound M680I &amp; V726A (2.0%), and heterozygous M680I (1.0%). No statistically significant association was found between MEFV variants and MIS-C severity (<i>p</i> = 0.86). No significant associations were detected between MEFV variants and MISC clinical manifestations.</p> Conclusion <p>Most children with MIS-C in this cohort had no detectable MEFV mutation, and the identified variants were not associated with disease severity or major organ manifestations. These findings do not support a major role for common MEFV variants in determining MIS-C severity, although larger multicenter studies are needed to clarify their potential contribution.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Limited association of MEFV gene variants with disease severity and clinical phenotypes in children with MIS-C

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月27日

查看全文
  • Hala Lotfy,
  • Heba Atef,
  • Fatma Abd El Wahab,
  • Sarah Ragab,
  • Hend Abu Shady

摘要

Background

Multisystem inflammatory syndrome in children (MIS-C) is a post-infectious hyperinflammatory condition that develops after SARS-CoV-2 infection and may involve multiple organ systems, including the cardiovascular, hematologic, neurologic, and gastrointestinal systems. Because MIS-C is characterized by immune dysregulation, genetic factors affecting inflammasome pathways may contribute to disease susceptibility or phenotypic variation.

Objective

To evaluate the frequency of MEFV gene variants in children with MIS-C and to assess their association with disease severity, laboratory findings, and different clinical manifestations.

Methods

This study included 98 children diagnosed with MIS-C. All patients were evaluated for MEFV gene variants. Variant frequencies were determined, and associations between MEFV mutation status and disease severity, laboratory parameters, and clinical manifestations were analyzed using the Chi-square test.

Results

Most patients had no detectable MEFV mutation (81/98, 82.7%), while 17.3% carried at least one variant. The most frequent variant was heterozygous E148Q (7.1%), followed by heterozygous V726A (2.0%), homozygous M694I (2.0%), heterozygous compound E148Q & P369S (3.1%), heterozygous compound M680I & V726A (2.0%), and heterozygous M680I (1.0%). No statistically significant association was found between MEFV variants and MIS-C severity (p = 0.86). No significant associations were detected between MEFV variants and MISC clinical manifestations.

Conclusion

Most children with MIS-C in this cohort had no detectable MEFV mutation, and the identified variants were not associated with disease severity or major organ manifestations. These findings do not support a major role for common MEFV variants in determining MIS-C severity, although larger multicenter studies are needed to clarify their potential contribution.