Objectives

Human Ficolin-3 (FCN3) is an oligomeric-structured lectin encoded by the FCN3 gene with a pivotal role in the lectin complement pathway. It has anti-microbial activities against bacterial and viral infections and restrains opportunistic pathogens. Mutation in the FCN3 gene is associated with variable clinical manifestations particularly immunologic (infections and autoimmunity) and neurologic complications.

Methods

In this study, we report a 5-year-old boy with a biallelic mutation in the FCN3 gene using clinical and immunological and genetic evaluations (whole exome sequencing).

Results

Our case is the first national and the eighth case worldwide with a confirmed frameshift mutation associated with Ficolin-3 deficiency. He manifested refractory seizures since early infancy, meningitis, pyelonephritis and was diagnosed with severe primary immunodeficiency.

Conclusion

Our case and literature review indicate Ficolin-3 deficiency should be considered in early-onset, premature neonate with a bacterial infection, neurological manifestation and systemic lupus erythematosus like presentations.

中文翻译：

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一例先天性 ficolin-3 缺乏症伴原发性免疫缺陷的新病例。

目标

人Ficolin -3 ( FCN3 ) 是由FCN3基因编码的寡聚结构凝集素，在凝集素补体途径中起关键作用。它对细菌和病毒感染具有抗微生物活性并抑制条件致病菌。FCN3基因突变与多种临床表现相关，尤其是免疫学（感染和自身免疫）和神经系统并发症。

方法

在这项研究中，我们使用临床、免疫学和遗传评估（全外显子组测序）报告了一名FCN3基因双等位基因突变的 5 岁男孩。

结果

我们的病例是第一个全国性病例，也是全球第 8 个确诊的移码突变与 Ficolin-3 缺乏相关的病例。他从婴儿早期就表现出难治性癫痫、脑膜炎、肾盂肾炎，并被诊断为严重的原发性免疫缺陷。

结论

我们的病例和文献综述表明，在早发性早产儿伴有细菌感染、神经系统表现和系统性红斑狼疮样表现时，应考虑 Ficolin-3 缺乏症。