背景:常见可变免疫缺陷病(CVID)是一组以免疫球蛋白产生受损和免疫反应失调为特征的原发性免疫缺陷。在少数患者中已经描述了神经系统表现,对它的临床和治疗方法知之甚少。因此,这项工作旨在回顾有关它的文献,并帮助区分CVID和它的模仿,尤其是结节病.
方法:我们描述了一例病例报告,并纳入了关于CVID的炎性神经参与的文献综述。
结果:一名32岁女性患者,有反复细菌感染病史,研究中的颞部局灶性癫痫和肉芽肿性肺疾病,宫颈鳞状细胞癌,最初因颅内高压而进入急诊科。在排除传染病和肿瘤病因后,最可能的假设是肺部肉芽肿,大脑,软脑膜炎症受累与结节病有关。两年后,做出了CVID的诊断,患者再次被诊断为肉芽肿性和淋巴细胞性间质性肺病(GLILD)和相关的炎症性脑疾病-两者都是CVID的并发症。在开始免疫球蛋白替代和脉冲糖皮质激素的靶向治疗后,病人变得稳定。然而,COVID-19大流行期间连续三次免疫球蛋白摄入失败导致疾病复发和神经系统表现复发.
结论:本病例说明了CVID的复杂多器官表现。当这些患者出现肉芽肿症状时,在CVID的背景下出现的一种罕见的肺部疾病,多系统受累的GLILD疾病,应该考虑。联合类固醇和免疫疗法的早期治疗似乎可有效控制CVID的神经系统表现。
BACKGROUND: Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies characterized by impaired immunoglobulin production and dysregulated immune response. Neurological manifestations have been described in a few patients, and little is known about its clinic and therapeutic approach. Thus, this work aimed to
review the literature on it and to help differentiate CVID from its mimics, especially sarcoidosis.
METHODS: We described a case report and included a literature
review of inflammatory neurological involvement in CVID.
RESULTS: A 32-year-old female patient with a medical history of recurrent bacterial infections, temporal focal epilepsy and granulomatous lung disease under study, and cervix squamous cell carcinoma, was initially admitted to the emergency department due to intracranial hypertension. After excluding infectious and neoplastic etiologies, the most likely hypothesis was that granulomatous pulmonary, cerebral, and leptomeningeal inflammatory involvement were associated with sarcoidosis. Two years later, a diagnosis of CVID was made, and the patient was secondarily diagnosed with Granulomatous and Lymphocytic Interstitial Lung Disease (GLILD) and related inflammatory brain disease - both complications of CVID. After starting targeted treatment with immunoglobulin replacement and pulse glucocorticoids followed by a chronic taper, the patient became stable. However, three consecutive failures in immunoglobulin intake during the COVID-19 pandemic led to disease recurrence with relapse of neurological manifestations.
CONCLUSIONS: This case illustrates the complex multiple organ manifestations of CVID. When granulomatous conditions arise in these patients, a rare lung disease arising in the context of CVID, the GLILD disease with multisystem involvement, should be taken into consideration. Early treatment with combined steroids and immunotherapy seems to be effective in controlling CVID\'s neurological manifestations.