Lin Sheng-Chieh, Shyur Shyh-Dar, Ma Yi-Chun, Huang Li-Hsin, Lee Wen-I
Division of Allergy, Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Ann Allergy Asthma Immunol. 2005 Jul;95(1):93-7. doi: 10.1016/S1081-1206(10)61194-5.
Hyper-IgM1 syndrome is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand gene. It is characterized by normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE levels. Patients with this syndrome often easily develop infections. During the past decade, it has become clear that enteroviral infections may also occur as a manifestation of hyper-IgM1 syndrome.
To report a case of hyper-IgM1 syndrome in a 3-month-old boy who had interstitial pneumonia and intractable diarrhea.
Chest radiography, bronchoscopy, immune studies, and open lung biopsy were performed.
Chest radiography revealed diffuse bilateral infiltrates. Immune studies revealed the following proportions of lymphocyte markers: CD3, 5,976/microL; CD4, 5,015/microL; CD8, 866/microL; CD19, 1,325/microL; CD16 + 56, 935/microL; and active T cells, 225/microL. The IgG level was 190 mg/dL; IgA, 2 mg/dL; IgM, 34 mg/dL; IgE, 1 IU/dL; and CH50, 23.8/mL. CD40L expression was less than 1%, and a Tyr 169 Asn (t526a) mutation in the exon 5 tumor necrosis factor domain of the CD40L gene was found. The patient was treated with intravenous immunoglobulin and had a dramatic improvement in symptoms. Open lung biopsy failed to demonstrate pneumocystis, and there was no evidence of cryptosporidium in the stool. However, coxsackievirus B4 was isolated by viral throat culture.
Interstitial pneumonia and diarrhea caused by coxsackievirus B4 may be a complication of hyper-IgM1 syndrome.
高IgM1综合征是一种由CD40配体基因突变引起的罕见遗传性原发性免疫缺陷病。其特征为IgM水平正常或升高，而血清IgG、IgA和IgE水平显著降低。该综合征患者常易发生感染。在过去十年中，已明确肠道病毒感染也可能作为高IgM1综合征的一种表现形式出现。
报告一例3个月大患间质性肺炎和顽固性腹泻的高IgM1综合征男婴病例。
进行了胸部X线摄影、支气管镜检查、免疫研究及开放性肺活检。
胸部X线摄影显示双侧弥漫性浸润。免疫研究显示淋巴细胞标志物比例如下：CD3，5976/μL；CD4，5015/μL；CD8，866/μL；CD19，1325/μL；CD16 + 56，935/μL；活性T细胞，225/μL。IgG水平为190mg/dL；IgA，2mg/dL；IgM，34mg/dL；IgE，1IU/dL；CH50，23.8/mL。CD40L表达低于1%，且在CD40L基因外显子5肿瘤坏死因子结构域发现Tyr 169 Asn（t526a）突变。该患者接受静脉注射免疫球蛋白治疗后症状显著改善。开放性肺活检未发现肺孢子菌，粪便中也没有隐孢子虫的证据。然而，通过病毒咽喉培养分离出柯萨奇病毒B4。
柯萨奇病毒B4引起的间质性肺炎和腹泻可能是高IgM1综合征的一种并发症。
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