Major comments:
*(1) The presentation of the genetic results should be improved further. The nomenclature mutation, SNP, single heterozygous used by the authors is very confusing. Please rename the results section are "genetic results" and in table 1 use the term "Summary of genetic findings". It is not immediately clear from table 1 which one are real mutations and which one are polymorphisms or variants of unknown significance. Maybe the authors can reorganize the table to clarify that.
Answers: Thanks for your kind suggestions. According to your advice, we replace the results section "Mutation Identification" with"Genetic Results", and rename the Table 1 title as" Summary of genetic findings in 45 HLH patients ".
大修*(2) The result section concerning the genetic results is also very confusing. Please introduce first the cases with a definitive molecular diagnosis, the four cases with biallelic PRF1 or hemizygous SH2D1A mutations. Then introduce the cases of patients with known HLH mutations only found in heterozygous state, such as P6 and P45. Then cases with monoallelic variants of unknown significance (rare, predicted damaging, but not reported before). Then cases with SNPs.
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Major comments:
*(1) The presentation of the genetic results should be improved further. The nomenclature mutation, SNP, single heterozygous used by the authors is very confusing. Please rename the results section are "genetic results" and in table 1 use the term "Summary of genetic findings". It is not immediately clear from table 1 which one are real mutations and which one are polymorphisms or variants of unknown significance. Maybe the authors can reorganize the table to clarify that.
结果部分:Mutation Identification换成Genetic Results
Summary of mutations 换成Summary of genetic findings
Answers: Thanks for your kind suggestions. According to your advice, we replace the results section "Mutation Identification" with"Genetic Results", and rename the Table 1 title as" Summary of genetic findings in 45 HLH patients ".
In order to make the results of Table 1 more clear, we delete polymorphisms and variants of unknown significance, and only keep the real mutations.
大修*(2) The result section concerning the genetic results is also very confusing. Please introduce first the cases with a definitive molecular diagnosis, the four cases with biallelic PRF1 or hemizygous SH2D1A mutations. Then introduce the cases of patients with known HLH mutations only found in heterozygous state, such as P6 and P45. Then cases with monoallelic variants of unknown significance (rare, predicted damaging, but not reported before). Then cases with SNPs.
话说被审稿人这么一说，真觉得自己的稿子逻辑很差，