Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant autoinflammatory disease characterized by episodic skin, musculoskeletal, ophthalmic and gastrointestinal tract symptoms. Here we report an 11-year-old girl with a history of repeated episodes of fever, myalgia, arthralgia, abdominal pain, and urticarial rash in the trunk and limbs. Chest and pelvic X-Ray, sacroiliac joints MRI, brain MRI and abdominal CT scan were normal. Anti-nuclear antibody, Rheumatoid factor, cryoglobulin, ANCA/PR3, p-ANCA/MPO, anti-smooth muscle antibody and anti-mitochondrial antibody were negative. Serology for cytomegalovirus, Epstein-Barr, hepatitis B, hepatitis C, and HIV viruses was negative. Serum immunoglobulins were in the normal range. Genetic analysis for familial Mediterranean fever syndrome was negative. Whole exome sequencing was carried out to identify the genetic cause of our patient. We identified a homozygous missense variant (c.579C > G, p. His193Gln) in exon 7 of the PLCG2 gene. Bioinformatic analysis and clinical symptoms suggests this variant to be pathogenic in the homozygous state for APLAID and thus probably acting in an autosomal recessive manner. Our bioinformatic analysis also showed this novel mutation to have detrimental effects on the 3D structure of the PLCG2 protein, which is well conserved among many other similar species.

中文翻译：

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来自伊朗的纯合型自发炎和PLCG2相关抗体缺乏和免疫失调（APLAID）的新报告。

自体炎症和PLCG2相关抗体缺乏和免疫调节异常（APLAID）是一种常染色体显性遗传性自体炎症，其特征是发作性皮肤，肌肉骨骼，眼科和胃肠道症状。在这里，我们报道了一个11岁的女孩，她有反复发烧，肌痛，关节痛，腹痛和躯干和四肢荨麻疹的发作史。胸部和骨盆X射线，sa关节MRI，脑MRI和腹部CT扫描均正常。抗核抗体，类风湿因子，冷球蛋白，ANCA / PR3，p-ANCA / MPO，抗平滑肌抗体和线粒体抗体均为阴性。巨细胞病毒，爱泼斯坦-巴尔，乙型肝炎，丙型肝炎和HIV病毒的血清学阴性。血清免疫球蛋白在正常范围内。家族性地中海热综合征的遗传分析为阴性。进行了完整的外显子组测序，以确定我们患者的遗传原因。我们在PLCG2基因的第7外显子中鉴定了一个纯合的错义变体（c.579C> G，p。His193Gln）。生物信息学分析和临床症状表明，该变体在APLAID的纯合状态下具有致病性，因此可能以常染色体隐性方式起作用。我们的生物信息学分析还显示，该新突变对PLCG2蛋白质的3D结构具有有害影响，而PLCG2蛋白质在许多其他相似物种中均得到很好的保存。生物信息学分析和临床症状表明，该变体在APLAID的纯合状态下具有致病性，因此可能以常染色体隐性方式起作用。我们的生物信息学分析还显示，该新突变对PLCG2蛋白质的3D结构具有有害影响，而PLCG2蛋白质在许多其他相似物种中均得到很好的保存。生物信息学分析和临床症状表明，该变体在APLAID的纯合状态下具有致病性，因此可能以常染色体隐性方式起作用。我们的生物信息学分析还显示，该新突变对PLCG2蛋白的3D结构具有有害影响，而PLCG2蛋白在许多其他相似物种中也得到很好的保护。