Department of Immunology, Medical Research Institute, Colombo 08, Sri Lanka.
Allergy Asthma Clin Immunol. 2013 Dec 27;9(1):50. doi: 10.1186/1710-1492-9-50.
While primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka.
Nine hundred and forty two patients with recurrent infections and features suggestive of immune deficiency, referred from the entire country in a 4 year period, to the sole immunology unit in Sri Lanka were included. The following tests were performed. Full blood counts, serum Immunoglobulin and complement C3 and C4 levels, functional antibody levels, enumeration of lymphocyte subsets, in vitro and in vivo T cell functional assays,, nitroblue tetrazolium assay to diagnose chronic granulomatous disease, hair shaft assay to diagnose Griscelli syndrome. Sequencing of the common gamma chain to identify x linked severe combined immune deficiency, and X linked agammaglobulinemia was confirmed by assaying for Btk mutations by single sequence conformation polymorphism. HIV/AIDS was excluded in all patients.
Seventy three patients were diagnosed with a primary immune deficiency. The majority (60.27%) had antibody deficiency. Common variable immune deficiency was the commonest (28.76%), followed by X linked agammaglobulinemia (XLA) (20.54%). Five patients had possible hyper IgM syndrome.Ten patients had severe combined immune deficiency (SCID), including 2 with x linked SCID, in addition to DiGeorge syndrome (2), ataxia telangiectasia (6), autosomal dominant hyper IgE syndrome (2), chronic granulomatous disease (4), leucocyte adhesion deficiency type 1 (2) and Griscelli syndrome (3).Patients with autoinflammatory, innate immune and complement defects could not be identified due to lack of facilities.
Antibody deficiency is the commonest PID, as in the west.IgA deficiency is rare. Autoinflammatory diseases, innate immune and complement deficiencies could not be identified due to lack of diagnostic facilities. Lack of awareness of PID among adult physicians result in delay in treatment of adult patients. While treatment of antibody deficiencies provided in state hospitals has extended life expectancy, there is no treatment available for severe T cell defects.
尽管原发性免疫缺陷病（PID）在西方已被认识了几十年，但在第三世界的认识却被推迟了。本研究试图详细描述 PID 的谱、提供的治疗方法以及在斯里兰卡等中等收入国家诊断和治疗中的限制。
在四年期间，从全国范围内将 942 名患有复发性感染和免疫缺陷特征的患者转诊到斯里兰卡唯一的免疫单位，这些患者被纳入研究。进行了以下检查：全血细胞计数、血清免疫球蛋白和补体 C3 和 C4 水平、功能性抗体水平、淋巴细胞亚群计数、体外和体内 T 细胞功能测定、硝基四唑蓝测定诊断慢性肉芽肿病、毛发轴测定诊断 Griscelli 综合征。通过单序列构象多态性测定 Btk 突变来确认 X 连锁无丙种球蛋白血症，通过测序常见的γ链来识别 X 连锁严重联合免疫缺陷，测序 HIV/AIDS 排除了所有患者。
73 名患者被诊断为原发性免疫缺陷病。大多数（60.27%）有抗体缺陷。常见的可变免疫缺陷是最常见的（28.76%），其次是 X 连锁无丙种球蛋白血症（XLA）（20.54%）。五名患者可能患有高 IgM 综合征。十名患者患有严重联合免疫缺陷病（SCID），包括 2 名 X 连锁 SCID，此外还有 DiGeorge 综合征（2 例）、共济失调毛细血管扩张症（6 例）、常染色体显性高 IgE 综合征（2 例）、慢性肉芽肿病（4 例）、白细胞黏附缺陷 1 型（2 例）和 Griscelli 综合征（3 例）。由于缺乏设施，无法识别自身炎症性、先天免疫和补体缺陷患者。
抗体缺陷是最常见的 PID，与西方一样。IgA 缺乏症很少见。由于缺乏诊断设施，无法识别自身炎症性疾病、先天免疫和补体缺陷。成人医生对 PID 的认识不足导致成人患者的治疗延迟。虽然国家医院提供的抗体缺陷治疗延长了患者的预期寿命，但严重 T 细胞缺陷尚无治疗方法。
