Department of Respiratory Medicine, Aintree Chest Centre, Liverpool University Hospitals NHS Foundation Trust, Liverpool, L9 7AL, UK.
Department of Pathology, Whiston Hospital, St Helen's & Knowsley Teaching Hospitals NHS Trust, Merseyside, UK.
BMC Pulm Med. 2020 Jul 31;20(1):205. doi: 10.1186/s12890-020-01231-6.
Common variable immunodeficiency (CVID) is a group of heterogeneous primary immunodeficiencies characterised by a dysregulated and impaired immune response. In addition to an increased susceptibility to infection, it is also associated with noninfectious autoimmune and lymphoproliferative complications. CVID is rarely associated with neurological complications. Pulmonary involvement is more common, and patients can develop an interstitial lung disease known as granulomatous-lymphocytic interstitial lung disease (GLILD).
A 50-year-old Caucasian female with a history of Evans syndrome (idiopathic thrombocytopaenic purpura and autoimmune haemolytic anaemia) and hypogammaglobulinaemia initially presented to the neurology clinic with marked cerebellar ataxia and headaches. Following extensive investigation (which included brain biopsy), she was diagnosed with neuro-sarcoidosis and her symptoms resolved following treatment with immunosuppressive therapy. Over the following 10 years, she was extensively investigated for recurrent pulmonary infections and abnormal radiological findings, which included pulmonary nodules, infiltrates and splenomegaly. Subsequently, she was referred to an immunology clinic, where immunoglobulin replacement treatment was started for what was ultimately considered to be CVID. Shortly afterwards, evaluation of her clinical, radiological and histological findings at a specialist interstitial lung disease clinic led to a diagnosis of GLILD.
CVID is a condition which should be suspected in patients with immunodeficiency and recurrent infections. Concomitant autoimmune disorders such as haemolytic anaemia and immune thrombocytopenia may further support the diagnosis. As illustrated in this case, there is a rare association between CVID and inflammatory involvement of the neurological system. Respiratory physicians should also suspect CVID with associated GLILD in patients with apparent pulmonary granulomatous disease and recurrent infections. In addition, this case also highlights the challenge of diagnosing CVID and its associated features, and how the definitive exclusion of other pathologies such as malignancy, mycobacterial infection and lymphoma is required as part of this diagnostic process.
普通变异型免疫缺陷病（CVID）是一组异质性原发性免疫缺陷病，其特征为免疫反应失调和受损。除了易感染外，它还与非传染性自身免疫和淋巴增生性并发症相关。CVID 很少与神经系统并发症相关。肺部受累更常见，患者可能会发展为一种间质性肺病，称为肉芽肿性淋巴细胞性间质性肺病（GLILD）。
一位 50 岁的白人女性，有 Evans 综合征（特发性血小板减少性紫癜和自身免疫性溶血性贫血）和低丙种球蛋白血症病史，最初因明显的小脑共济失调和头痛到神经内科就诊。经过广泛的检查（包括脑活检），她被诊断为神经结节病，经免疫抑制治疗后症状缓解。在接下来的 10 年中，她因反复肺部感染和异常影像学发现（包括肺结节、浸润和脾肿大）而接受了广泛的检查。随后，她被转介到免疫科诊所，开始接受免疫球蛋白替代治疗，最终被认为是 CVID。不久之后，在一家专门的间质性肺病诊所对她的临床、放射学和组织学发现进行评估，导致 GLILD 的诊断。
CVID 是一种应怀疑存在免疫缺陷和反复感染的疾病。溶血性贫血和免疫性血小板减少等伴随自身免疫性疾病可能进一步支持诊断。如本病例所示，CVID 与神经系统炎症性受累之间存在罕见关联。呼吸科医生也应怀疑 CVID 并伴有明显肺部肉芽肿性疾病和反复感染的相关 GLILD。此外，本病例还强调了诊断 CVID 及其相关特征的挑战，以及在诊断过程中需要明确排除其他病理学，如恶性肿瘤、分枝杆菌感染和淋巴瘤。
