[1]张 翠,李小青△,耿玲玲,等.X连锁高IgM综合征4例临床分析[J].陕西医学杂志,2019,(3):366-369.
　ZHANG Cui,LI Xiaoqing,GENG Lingling,et al.Clinical features of 4 children with Xlinked hyperIgM syndromes[J].,2019,(3):366-369.
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X连锁高IgM综合征4例临床分析
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
期数:
2019年3期
页码:
366-369
栏目:
基础研究
出版日期:
2019-03-05

文章信息/Info

Title:
Clinical features of 4 children with Xlinked hyperIgM syndromes
文章编号:
DOI:10.3969/j.issn.10007377.2019.03.022
作者:
张 翠; 李小青△ ; 耿玲玲; 冯 媛; 南 楠; 刘 昱
西安市儿童医院免疫科 (西安710003）
Author(s):
ZHANG Cui;  LI Xiaoqing; GENG Lingling;  et al.
Immunology Department，Xi’an Children’s Hospital（Xi’an710003）
关键词:
CD40 配体; X连锁联合免疫缺陷病; 诊断; 儿童; 临床分析
Keywords:
Key words CD40 ligand; XLinked combined immunodeficiency diseases; Diagnosis; Child; Clinical feature
分类号:
R725.8
文献标志码:
A
摘要:
摘 要 目的：探讨X连锁高IgM综合征（XHIGM）的临床特征。方法：回顾性分析4例XHIGM患儿临床特征及实验室检查。结果：4例XHIGM患儿平均起病年龄1.3岁，平均确诊年龄5.4岁;反复口腔溃疡和反复呼吸道感染为最常见的临床表现，其次为化脓性中耳炎。4例患儿IgG水平显著降低，IgM水平升高，2例患儿IgA缺乏，2例患儿IgA水平升高。明确了4例患儿CD40L基因突变(c.256+1G>T,c.631dupA,c.709710insTGTT, c.374375delAT)。结论：对于反复感染的患儿，若IgG水平显著降低，IgM水平升高，应考虑高IgM 综合征可能。反复口腔溃疡及中性粒细胞减少症对诊断有重要提示意义。基因诊断对于XHIGM患儿的明确诊断是必要的。
Abstract:
Abstract Objective： To explore the clinical features in children with Xlinked HyperIgM Syndromes（XHIGM）. Methods：Clinical features and laboratory examination results of 4 children with XHIGM were retrospectively analyzed. Results： The mean age of onset was 1.3 years , and the mean age at diagnosis was 5.4 years. Recurrent oral ulcer and recurrent respiratory tract infection were the most frequent clinical condition , followed by otitis media suppurative.4 patients had evident IgG deficiency and elevated IgM level. 2 patients had IgA deficiency and 2 patients had high IgA level. we identified four distinct CD40L mutations(c.256+1G>T,c.631dupA,c.709710insTGTT,c.374375delAT). Conclusion：When patients had recurrent infections associated with low or absent levels of IgG and elevated levels of IgM, should be suspected hyperIgM syndromes. Recurrent oral ulcer and neutropenia are the cue of diagnosis. The genetic diagnosis is very necessary for identification of XHIGM patients.

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更新日期/Last Update: 2019-03-15