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題 名 | Hyper-IgM Syndrome: Report of One Case=高免疫球蛋白M症候群:一病例報告 |
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作 者 | 馬益群; 徐世達; 黃立心; 吳俊誼; 林聖傑; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷 期 | 45:6 民93.11-12 |
頁 次 | 頁334-339 |
分類號 | 414.82 |
關鍵詞 | 高免疫球蛋白M症候群; Hyper-IgM syndrome; CD40 ligand; |
語 文 | 英文(English) |
中文摘要 | 高免疫球蛋白M症候群是非常罕見的一種免疫不全疾病。主要是因CD40鍵(CD40 ligand)/CD40路徑缺陷所造成。臨床特徵為反覆感染,血液中IgM高或正常,但是其他免疫球蛋白IgG, IgA, IgE則很低。我們報告一個五個月大的小男嬰罹患嚴重肺炎,病程進行快速且對抗生素治療反應不佳。免疫學方面的檢查顯示IgG 18mg/dl, IgA 4mg/dl, IgM 128mg/dl, IgE 1 IU/ml, IgD<48 IU/ml, CH50 16.6 U/ml;淋巴球細胞表面標記(cell marker)顯示CD3 24.6%, CD4 10.3%, CD8 2.2% CD19 30.2%, CD57 1.0%, active T cells 1.1%。因此,我們認為小男嬰有細胞及體液型合併之免疫不全,疑似高免疫球蛋白M症候群。在給予了靜脈注射免疫球蛋白(IVIG)400 mg/kg之後,小男嬰病情慢慢好轉起來。這一年多來,小男嬰每月接受一次IVIG 400 mg/kg的注射,並沒有再出現反覆感染的情形。當小男嬰一歲三個月大時,我們再追蹤他的免疫學檢查,IgM已降至正常範圍(32 mg/dl)。因此,在小男嬰一歲九個月大時,我們安排了flow cytometry來偵測以phorbol 12-myristate 13-acetate (PMA)及calcium ionophore A23187刺激後,在CD4+T細胞上CD40鍵表現的情形。結果顯示小男嬰CD4+T細胞沒有顯著被激活的現象,呈現CD40鍵的CD4+T細胞並無明顯增加的趨勢(刺激前0.3% vs.刺激後0.48%)。但在爸爸、媽媽、姐姐、及對照組的CD4+T細胞皆有明顯增加的趨勢,分別是43.52%, 4.78%, 34.11%, 33.54%。因此,小男嬰的診斷確定爲高免疫球蛋白M症候群。此外,我們也安排了小男嬰與姊姊HLA typing的檢查,結果完全相符。 |
英文摘要 | 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. |
本系統中英文摘要資訊取自各篇刊載內容。