Mohammadinejad P, Pourhamdi S, Abolhassani H, Mirminachi B, Havaei A, Masoom S N, Sadeghi B, Ghajar A, Afarideh M, Parvaneh N, Mirsaeed-Ghazi B, Movahedi M, Gharagozlou M, Chavoushzadeh Z, Mahdaviani A, Zandieh F, Sherkat R, Sadeghi-Shabestari M, Faridhosseini R, Jabbari-Azad F, Ahanchian H, Zandkarimi M, Cherghi T, Fayezi A, Mohammadzadeh I, Amin R, Aleyasin S, Moghtaderi M, Ghaffari J, Bemanian M, Shafiei A, Kalantari N, Ahmadiafshar A, Khazaei H A, Mohammadi J, Nabavi M, Rezaei N, Aghamohammadi A
J Investig Allergol Clin Immunol. 2015;25(6):416-25.
Primary antibody deficiency (PAD) is the most common group of primary immunodeficiency disorders (PID), with a broad spectrum of clinical features ranging from severe and recurrent infections to asymptomatic disease.
The current study was performed to evaluate and compare demographic and clinical data in the most common types of PAD.
We performed a retrospective review of the medical records of all PAD patients with a confirmed diagnosis of common variable immunodeficiency (CVID), hyper IgM syndrome (HIgM), selective IgA deficiency (SIgAD), and X-linked agammaglobulinemia (XLA) who were diagnosed during the last 30 years at the Children's Medical Center, Tehran, Iran.
A total number of 280 cases of PAD (125 CVID, 32 HIgM, 63 SIgAD, and 60 XLA) were enrolled in the study. The median (range) age at the onset of disease in CVID, HIgM, SIgAD, and XLA was 2 (0-46), 0.91 (0-9), 1 (0-26), and 1 (0-10) years, respectively. Gastrointestinal infections were more prevalent in CVID patients, as were central nervous system infections in XLA patients. Autoimmune complications were more prevalent in HIgM patients, malignancies in CVID patients, and allergies in SIgAD patients. The mortality rate for CVID, HIgM, and XLA was 27.2%, 28.1%, and 25%, respectively. No deaths were reported in SIgAD patients.
SIgAD patients had the best prognosis. While all PAD patients should be monitored for infectious complications, special attention should be paid to the finding of malignancy and autoimmune disorders in CVID and HIgM patients, respectively.
原发性抗体缺陷（PAD）是原发性免疫缺陷病（PID）中最常见的一组疾病，具有广泛的临床特征，从严重的反复感染到无症状疾病。
进行本研究以评估和比较最常见类型的PAD的人口统计学和临床数据。
我们对过去30年在伊朗德黑兰儿童医学中心确诊为常见变异型免疫缺陷（CVID）、高IgM综合征（HIgM）、选择性IgA缺陷（SIgAD）和X连锁无丙种球蛋白血症（XLA）的所有PAD患者的病历进行了回顾性研究。
共有280例PAD患者（125例CVID、32例HIgM、63例SIgAD和60例XLA）纳入研究。CVID、HIgM、SIgAD和XLA发病时的中位（范围）年龄分别为2（0 - 46）岁、0.91（0 - 9）岁、1（0 - 26）岁和1（0 - 10）岁。胃肠道感染在CVID患者中更常见，中枢神经系统感染在XLA患者中更常见。自身免疫并发症在HIgM患者中更常见，恶性肿瘤在CVID患者中更常见，过敏在SIgAD患者中更常见。CVID、HIgM和XLA的死亡率分别为27.2%、28.1%和25%。SIgAD患者未报告死亡病例。
SIgAD患者预后最佳。虽然所有PAD患者都应监测感染并发症，但应分别特别关注CVID和HIgM患者中恶性肿瘤和自身免疫性疾病的发现。
