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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先天性ficolin-3缺乏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。它具有抗细菌和病毒感染的抗微生物活性，并能抑制机会致病菌。FCN3基因的突变与多种临床表现有关，特别是免疫学（感染和自身免疫）和神经系统并发症。

方法

在这项研究中，我们报告了一个5岁的男孩，使用临床，免疫学和遗传学评估（整个外显子组测序）在FCN3基因中存在双等位基因突变。

结果

我们的病例是世界上第一例，也是第八例，证实与Ficolin-3缺乏症有关的移码突变。自婴儿早期，脑膜炎，肾盂肾炎起，他就表现为难治性癫痫发作，并被诊断出患有严重的原发性免疫缺陷。

结论

我们的病例和文献综述表明，Ficolin-3缺乏症应考虑在早发，细菌感染，神经系统表现和系统性红斑狼疮等表现的早产新生儿中使用。