大修（2） Answers: Thanks for your kind suggestions. We re-write the introduction part of genetic results as following: "Four HLH patients were identified with hemizygous or compound heterozygous mutations (Primary HLH group), included P2(compound heterozygote), P16(hemizygote), P17(hemizygote), and P26 (hemizygote). Forty-one HLH patients were categorized into Non-primary HLH group, included nine HLH patients were single heterozygotes(P1, P3, P4, P5, P6, P7, P10, P11, and P45), three HLH patients with only SNPs(P8, P9, and P38), and other 29 HLH patients with no mutations. The genetic findings of the 45 HLH patients were shown in Table 1, and figures of these mutations were shown in Figure S1, S2A, S2B, S3, S4, and S5. Except SNPs, all mutations were not found in controls."，
大修*(3) For cases like P6 and P25 there is a high chance that the second mutation has been missed. I would advice RNA studies or studies of Munc18-3 protein expression. For these cases, the authors should also comment on the results of the degranulation assay. In general the author should clearly state in the discussion that for the cases with monoallelic variant, a possible additional variant on the other allele might have been missed (e.g. regulatory variant or complex structural variants).
这个问题不好回答。先搜搜Munc18-3 蛋白的相关文献。
大修*(4) Concerning Table 2, it is not clear how the information from the ExAC database was reported. Some of the variants, such as UNC13D p.Arg254Cys, STXBP2 p.Thr166Met and others are indeed reported in ExAC. I would request the authors to clarify that maybe in separate columns. The Columns concerning SIFT and polyphen prediction can be made a bit more synthetic.
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7个大修条目，10个小修条目。
现在坐在电脑前，只觉得昏昏欲睡。
赶紧改才是。
大修（2） Answers: Thanks for your kind suggestions. We re-write the introduction part of genetic results as following: "Four HLH patients were identified with hemizygous or compound heterozygous mutations (Primary HLH group), included P2(compound heterozygote), P16(hemizygote), P17(hemizygote), and P26 (hemizygote). Forty-one HLH patients were categorized into Non-primary HLH group, included nine HLH patients were single heterozygotes(P1, P3, P4, P5, P6, P7, P10, P11, and P45), three HLH patients with only SNPs(P8, P9, and P38), and other 29 HLH patients with no mutations. The genetic findings of the 45 HLH patients were shown in Table 1, and figures of these mutations were shown in Figure S1, S2A, S2B, S3, S4, and S5. Except SNPs, all mutations were not found in controls."，
大修*(3) For cases like P6 and P25 there is a high chance that the second mutation has been missed. I would advice RNA studies or studies of Munc18-3 protein expression. For these cases, the authors should also comment on the results of the degranulation assay. In general the author should clearly state in the discussion that for the cases with monoallelic variant, a possible additional variant on the other allele might have been missed (e.g. regulatory variant or complex structural variants).
这个问题不好回答。先搜搜Munc18-3 蛋白的相关文献。
这篇SCI关系着拿学位证。所以压力非常非常大。
一审大修，也在改，好头疼
问题3比较难回答，所以决定先放着。最后再回答。
大修*(4) Concerning Table 2, it is not clear how the information from the ExAC database was reported. Some of the variants, such as UNC13D p.Arg254Cys, STXBP2 p.Thr166Met and others are indeed reported in ExAC. I would request the authors to clarify that maybe in separate columns. The Columns concerning SIFT and polyphen prediction can be made a bit more synthetic.
ExAC: Exome Aggregation Consortitium.
HGMD: Human Gene Mutation Database.
把这两列数据拆分出来，再查询一次做成表格。
SIFT and polyphen prediction的结果太长，精简。