X-Linked Hyper IgM Syndrome with Neutropenia: A Case Report
- 1 January 2020
- journal article
- Published by Hans Publishers in Asian Case Reports in Pediatrics
- Vol. 08 (01), 7-11
- https://doi.org/10.12677/acrp.2020.81002
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.This publication has 12 references indexed in Scilit:
- Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in JapanJournal of Allergy and Clinical Immunology, 2015
- Evaluation of a patient with hyper-IgM syndromeJournal of Allergy and Clinical Immunology, 2012
- Pitfalls of “hyper”-IgM syndrome: a new CD40 ligand mutation in the presence of low IgM levels. A case report and a critical review of the literatureInfection, 2010
- Autoimmunity in Hyper-IgM SyndromeJournal of Clinical Immunology, 2008
- Allogeneic hematopoietic stem cell transplantation for seven children with X‐linked hyper‐IgM syndrome: A single center experienceAmerican Journal of Hematology, 2004
- X-linked immunodeficiency with hyper-IgM (XHIM)Clinical and Experimental Immunology, 2000
- Clinical spectrum of X-linked hyper-IgM syndromeThe Journal of Pediatrics, 1997
- T cell malignancy in Richter's syndrome presenting as hyper IgM. Induction and characterization of a novel CD3, CD4-, CD8 T cell subset from phytohemagglutinin-stimulated patient's CD3, CD4, CD8 leukemic T cellsEuropean Journal of Immunology, 1989
- Hypogammaglobulinemia in mother and sonJournal of Allergy and Clinical Immunology, 1980
- Immunologic Deficiency in the Congenital Rubella SyndromeArchives of Pediatrics & Adolescent Medicine, 1969