Hyper-IgM Syndrome: Report of One Case

高免疫球蛋白M症候群：一病例報告

馬益群(Yi-Chun Ma) ； 徐世達(Shyh-Dar Shyur) ； 黃立心(Li-Hsin Huang) ； 吳俊誼(Jiunn-Yi Wu) ； 林聖傑(Sheng-Chieh Lin)

《Acta Paediatrica Taiwanica》 45卷6期 (2004/12) Pp. 334-339

https://doi.org/10.7097/APT.200412.0334

摘要

The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl, IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CDS7 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed 1gM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+T cells expressed CD4OL, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD4OL expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.

關鍵字

高免疫球蛋白M症候群 ； CD40鍵

並列摘要

The hyper-IgM syndrome (HIM) is a rare primary immunodeficiency disorder caused by defects in the CD40 ligand (CD40L)/CD40-signaling pathway. It is characterized by recurrent infections with markedly decreased IgG, IgA and IgE levels but normal or elevated serum IgM levels. A 5-month-old boy presented with rapidly progressive pneumonia which responded poorly to antibiotics. High levels of IgM and very low levels of IgG, IgE and IgA were noted in his plasma specimen (IgM, 128 mg/dl; IgG, 18 mg/dl, IgE, 1 IU/ml; IgA, 4 mg/dl). The relative proportions of immune cells were CD3 24.6%, CD4 10.3%, CD8 2.2%, CD19 30.2%, CDS7 1.0% and active T cells 1.1%. After IVIG treatment, the pneumonia improved. Repeat assessment at the age of 15 months showed 1gM decreased to the normal range (32 mg/dl). Whole blood flow cytometry assay for CD40L expression confirmed the diagnosis of hyper-IgM syndrome when he was 21 months old. Only a small percentage (0.48%) of the patient's in vitro activated CD4+T cells expressed CD4OL, compared with 33.54% from a healthy control. The patient's father, mother and sister all had a normal CD4OL expression activation patterns (43.52%, 40.78%, 34.11%, respectively). On a regimen of monthly IVIG infusion and oral trimethoprim-sulfamethoxazole for Pneumocystis carinii pneumonia (PCP) prophylaxis, the patient has had no recurrent infections.

並列關鍵字

hyper-IgM syndrome ； CD40 ligand