陈珊珊 郭子文 叶永斌 苏冰源 黄贵年

【摘要】Good综合征（伴胸腺瘤的免疫缺陷症）是一种成人免疫缺陷病，特点是合并胸腺瘤及低丙种球蛋白血症。该病有细胞和体液免疫双重缺陷，患者常表现为反复感染。该文报道1例62岁AB型胸腺瘤女性患者，反复细菌、真菌和病毒感染，血清Ig低下，B淋巴细胞缺如、CD4+ T淋巴细胞下降、CD4+/CD8+ T淋巴细胞比值下降，诊断为Good综合征。该患者同时有粒细胞缺乏、慢性病性贫血，进一步骨髓宏基因组测序发现KIT与ARID1A基因突变，予补充Ig及抗感染治疗，患者症狀好转出院。随访患者仍有Ig下降，予定时复查血常规、Ig，并适时补充Ig。Good综合征相对罕见，临床表现复杂，容易延误诊断，临床医师需引起重视。

【关键词】Good综合征;伴胸腺瘤的免疫缺陷症;免疫缺陷;胸腺瘤;粒细胞缺乏

Diagnosis and treatment of Goods syndrome： a case report Chen Shanshan， Guo Ziwen， Ye Yongbin， Su Bingyuan， Huang Guinian. Division of Hematology， Affiliated Zhongshan Hospital， Sun Yat-sen University，

Zhongshan 528403， China

Corresponding author， Huang Guinian， E-mail： hgn1997@163.com

【Abstract】Goods syndrome （immunodeficiency with thymoma） is an adult immunodeficiency disease characterized by thymoma complicated with hypogammaglobulinemia. Due to dual deficiency of cellular and humoral immune functions， patients constantly present with recurrent infection. This article reported one 62-year-old female patient with type AB thymoma presenting with recurrent bacterial， fungal and viral infection， low serum immunoglobulin， B lymphocyte deficiency， decreased CD4+ T cells and CD4+/CD8+ T ratio， which were consistent with the diagnosis of Goods syndrome. Meanwhile， the patient was complicated with agranulocytosis and anemia of chronic disease. Furthermore， bone marrow genetic detection revealed mutations in KIT and ARID1A genes. The patient was discharged after immunoglobulin supplement and anti-infection therapy. During follow-up， serum immunoglobulin level was declined. Routine blood test was performed on a regular basis. Immunoglobulin supplement was given when necessary.  Goods syndrome is relatively rare in clinical practice. It is likely to delay the diagnosis due to complex clinical manifestations， which is worthy of widespread attention from clinicians.

【Key words】Goods syndrome; Immunodeficiency with thymoma; Immunodeficiency; Thymoma;

Agranulocytosis

Good综合征（伴胸腺瘤的免疫缺陷症）是罕见的成年发病的原发性免疫缺陷病，以胸腺瘤、低丙种球蛋白血症、CD4+/CD8+ T淋巴细胞比值下降（倒置）、低外周血B细胞和伴有CD4+ T淋巴细胞免疫缺陷为特点[1]。0.4% ～ 6.0%的胸腺瘤患者合并Good综合征，该病46.9%的病例出现在欧洲，其次为美国，国内尚无患病率报道[2-3]。Good综合征发病率低、临床表现复杂，容易误诊、漏诊[4]。为加深临床医师对该病的认识，现将笔者近期收治的一例Good综合征诊治过程报告如下。

病例资料

一、病史与体格检查

患者女，62岁。因胸部肿物15年，反复咳嗽、发热、乏力6年于2020年8月6日入院。患者于2005年8月CT检查发现胸部肿物，疑诊肺癌，放弃治疗。2014年8月患者出现咳嗽伴发热、乏力，查白细胞2×109/L，后出现手足“灰指（趾）甲”。……