Transcriptomic profile of neutrophils and macrophages from APLAID mutant mice

Missense mutations in the PLCg2 gene can cause autoinflammation, antibody deficiency and immune dysregulation (APLAID). Clinical and laboratory features include recurrent blistering skin lesions, pulmonary manifestations, inflammatory eye – and bowel diseases accompanied by reduced class-switching memory B cell counts and recurrent infections. Disease onset occurs typically during childhood with varying degrees of severity. To date there is no known cure of APLAID. The potential mechanism by which autoinflammation is promoted in APLAID remains elusive. However, neutrophils and macrophages are the main drivers of autoinflammation. In order to dissect the pathogenicity of disease we analyse the transcriptome of neutrophils and macrophages extracted from newly established APLAID mutant mice. Overall design: Comparative gene expression profiling analysis of macrophages and neutrophils samples from skin and lung of APLAID mutant and control mice.

PLCg2基因（PLCg2）的错义突变可诱发自身炎症、抗体缺陷及免疫失调综合征（APLAID）。该疾病的临床与实验室特征包括复发性水疱性皮肤病变、肺部表现、炎症性眼病与肠道疾病，同时伴有类别转换记忆B细胞计数降低及反复感染。该病通常于儿童期起病，病情严重程度因人而异。目前针对APLAID尚无已知治愈手段。APLAID中自身炎症发生的潜在机制仍不明确。不过，中性粒细胞与巨噬细胞是该自身炎症过程的主要驱动因素。为解析该疾病的致病机制，我们对新构建的APLAID突变小鼠体内分离得到的中性粒细胞与巨噬细胞进行了转录组分析。整体实验设计：对APLAID突变小鼠与对照小鼠皮肤、肺部来源的巨噬细胞及中性粒细胞样本开展比较基因表达谱分析。