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以粒细胞低为主要表现的X连锁高IgM综合症一例
X-Linked Hyper IgM Syndrome with Neutropenia: A Case Report

DOI: 10.12677/ACRP.2020.81002, PP. 7-11

Keywords: 免疫缺陷病，高IgM，儿童，X连锁，中性粒细胞低
Immunodeficiency Diseases, Hyper-IgM, Children, X-Linked Inheritance, Neutropenia

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Abstract:

目的：探讨高IgM综合症病因、临床表现、诊断和治疗。方法：对我科诊断X连锁高IgM综合症患者的临床资料进行回顾及分析。结果：患者因生后反复多次感染住院，多次血常规示中性粒细胞计数降低，多次免疫球蛋白检查示无IgA和IgG降低，且IgM正常，基因检测示CD40L基因突变，诊断为X连锁高IgM综合症。结论：在临床工作中，易出现反复感染伴中性粒细胞计数减少的患儿，需警惕免疫缺陷病。
Objective: To investigate the causes, clinical manifestation, diagnosis and treatment of Hyper-IgM syndrome. Methods: The clinical data of one child with X-linked hyper-IgM syndrome diagnosed by our department were analyzed retrospectively. Results: The child was admitted to hospital due to repeated infection after birth. Repeated blood tests showed decreased neutrophils count, repeated immunoglobulin tests showed no IgA or IgG decrease, and IgM was normal. Gene tests showed CD40L gene mutation, which was diagnosed as X-linked hyper-IgM syndrome. Conclusion: In clinical practice, children prone to recurrent infection with decreased neutrophils count need to alert to immunodeficiency disease.

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