高IgE综合征DOCK8基因新位点变异一例
1例临床表现为湿疹样皮肤损害、反复呼吸道感染以及血IgE水平升高等症状的患儿,综合临床表现、辅助检查以及基因检测等确诊为高IgE综合征.该患儿的基因检测为DOCK8基因第38号外显子有1个纯合变异:c.4886 G＞A,导致氨基酸改变p.R1629K.已有文献显示DOCK8基因变异以缺失为主,第38号外显子变异未见报道....
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| Veröffentlicht in: | 中华儿科杂志 2019-03, Vol.57 (3), p.227-229 |
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| container_title | 中华儿科杂志 |
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| creator | 徐雪峰 盛远见 陶孝芬 邵亚楠 唐兰芳 陈志敏 |
| description | 1例临床表现为湿疹样皮肤损害、反复呼吸道感染以及血IgE水平升高等症状的患儿,综合临床表现、辅助检查以及基因检测等确诊为高IgE综合征.该患儿的基因检测为DOCK8基因第38号外显子有1个纯合变异:c.4886 G＞A,导致氨基酸改变p.R1629K.已有文献显示DOCK8基因变异以缺失为主,第38号外显子变异未见报道. |
| doi_str_mv | 10.3760/cma.j.issn.0578-1310.2019.03.015 |
| format | Article |
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| language | chi |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| title | 高IgE综合征DOCK8基因新位点变异一例 |
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