Azizi Gholamreza, Bagheri Yasser, Tavakol Marzieh, Askarimoghaddam Forough, Porrostami Kumars, Rafiemanesh Hosein, Yazdani Reza, Kiaee Fatemeh, Habibi Sima, Abouhamzeh Kosar, Mohammadi Hamed, Qorbani Mostafa, Abolhassani Hassan, Aghamohammadi Asghar
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Endocr Metab Immune Disord Drug Targets. 2018;18(5):537-545. doi: 10.2174/1871530318666180413110216.
Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications.
A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications.
The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63.5% and chronic diarrhea in 17.2%. Common variable immune deficiency (CVID) patients had a higher diagnostic delay than class switching defect (CSD), and agammaglobulinemia. Among the noninfectious complications, autoimmunity (26.2%), and splenomegaly (23.4%) were the most common. Lymphadenopathy was higher in CSD patients than other PADs, while splenomegaly, hepatomegaly, autoimmunity and bronchiectasis were more common in CVID patients than others. Atopic manifestations were mostly recorded in patients with selective IgA deficiency. Malignancy was only reported in 5.8% of patients with CVID. There was a higher prevalence of autoimmune manifestations in CVID comparing to other PADs.
PADs are relatively rare diseases and these patients have a variety of first clinical manifestations, such as diverse infections, autoimmunity, lymphoproliferation, allergy, enteropathy and malignancy. Practitioner's awareness about the heterogeneous presentations of PAD disorders is poor, therefore patients often are lately diagnosed, and they are complicated with several clinical complications before the certain diagnosis.
原发性抗体缺陷（PAD）包括一系列从早期到晚期终末B细胞缺陷的疾病，并与各种临床并发症相关。
共有461例原发性抗体缺陷患者（311例男性和150例女性）纳入回顾性队列研究，收集所有患者的人口统计学信息、临床记录和实验室数据以调查临床并发症。
免疫缺陷最常见的首发表现为63.5%的呼吸道感染和17.2%的慢性腹泻。常见变异型免疫缺陷（CVID）患者的诊断延迟高于类别转换缺陷（CSD）和无丙种球蛋白血症患者。在非感染性并发症中，自身免疫（26.2%）和脾肿大（23.4%）最为常见。CSD患者的淋巴结病高于其他原发性抗体缺陷患者，而CVID患者的脾肿大、肝肿大、自身免疫和支气管扩张比其他患者更常见。特应性表现大多记录在选择性IgA缺乏症患者中。恶性肿瘤仅在5.8%的CVID患者中报告。与其他原发性抗体缺陷相比，CVID患者的自身免疫表现患病率更高。
原发性抗体缺陷是相对罕见的疾病，这些患者有多种首发临床表现，如各种感染、自身免疫、淋巴增殖、过敏、肠病和恶性肿瘤。从业者对原发性抗体缺陷疾病异质性表现的认识不足，因此患者常被诊断较晚，并且在确诊之前就出现了多种临床并发症。
