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家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义

OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigat...

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Formato: Online Artículo Texto
Lenguaje:English
Publicado: Editorial office of Chinese Journal of Hematology 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7365012/
https://www.ncbi.nlm.nih.gov/pubmed/27535855
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2016.07.005
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collection PubMed
description OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations. RESULTS: The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non-frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T450M) and frameshift mutation c.1090_1091delCT (p.T364fsX93) in PRF1 gene, missense mutation c.G2588A (p.G863D) in UNC13D gene and hemizygous mutation c.32T>G (p.I11S) in SH2D1A gene. The patients and their family members presented decreased NK cell activities. Individuals who carried mutations of PRF1 gene and SH2D1A gene showed low expression of perforin (PRF1) and signaling lymphocytic activation molecule associated protein (SAP). And the patient with UNC13D gene mutation and his family member with identical mutation showed significant reducing cytotoxic degranulation function (expression of CD107a). CONCLUSION: Pedigree genetic screening and rapid detection of immunological parameters might play an important role in the diagnosis of primary HLH, and both of them had good consistency. As an efficient detection means, the rapid immunological detection indicators would provide reliable basis for the early diagnosis of the primary HLH.
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spelling pubmed-73650122020-07-16 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义 Zhonghua Xue Ye Xue Za Zhi 论著 OBJECTIVE: To investigate the significance of pedigree genetic screening and rapid immunological parameters in the diagnosis of primary hemophagocytic lymphohistiocytosis (HLH). METHODS: Four cases of primary HLH patients with PRF1, UNC13D and SH2D1A gene mutations were conducted pedigree investigation, including family genetic screening and detections of immunological parameters (NK cell activity, CD107a degranulation and expression of HLH related defective protein), to evaluate the significance of these different indicators in the diagnosis of primary HLH and explore their correlations. RESULTS: The DNA mutations of the four families included missense mutation c.T172C (p.S58P) and non-frameshift deletions c.1083_1094del (p.361_365del), missense mutation c.C1349T (p.T450M) and frameshift mutation c.1090_1091delCT (p.T364fsX93) in PRF1 gene, missense mutation c.G2588A (p.G863D) in UNC13D gene and hemizygous mutation c.32T>G (p.I11S) in SH2D1A gene. The patients and their family members presented decreased NK cell activities. Individuals who carried mutations of PRF1 gene and SH2D1A gene showed low expression of perforin (PRF1) and signaling lymphocytic activation molecule associated protein (SAP). And the patient with UNC13D gene mutation and his family member with identical mutation showed significant reducing cytotoxic degranulation function (expression of CD107a). CONCLUSION: Pedigree genetic screening and rapid detection of immunological parameters might play an important role in the diagnosis of primary HLH, and both of them had good consistency. As an efficient detection means, the rapid immunological detection indicators would provide reliable basis for the early diagnosis of the primary HLH. Editorial office of Chinese Journal of Hematology 2016-07 /pmc/articles/PMC7365012/ /pubmed/27535855 http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2016.07.005 Text en 2016年版权归中华医学会所有 http://creativecommons.org/licenses/by-nc-sa/3.0/ This work is licensed under a Creative Commons Attribution 3.0 License (CC-BY-NC). The Copyright own by Publisher. Without authorization, shall not reprint, except this publication article, shall not use this publication format design. Unless otherwise stated, all articles published in this journal do not represent the views of the Chinese Medical Association or the editorial board of this journal.
spellingShingle 论著
家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title_full 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title_fullStr 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title_full_unstemmed 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title_short 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
title_sort 家系基因筛查及免疫学指标在原发性噬血细胞综合征诊断中的意义
topic 论著
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7365012/
https://www.ncbi.nlm.nih.gov/pubmed/27535855
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2016.07.005
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