Habahbeh Zeyad M, Abu-Shukair Mohammad E, Almutereen Mohammad A, Alzyoud Raed M, Wahadneh Adel M
Immunology, Allergy and Rheumatology Division, Queen Rania Children Hospital, King Hussein Medical Center, Amman, Jordan, e-mail:
Iran J Immunol. 2014 Mar;11(1):49-58.
Primary antibody deficiency, the most common primary immunodeficiency disorder, represents a heterogeneous spectrum of conditions caused by a defect in any critical stage of B cell development and is characterized by impaired production of normal amounts of antigen-specific antibodies.
This retrospective study aimed at description and analysis of demographic, clinical, immunological features and complications of subjects diagnosed with primary antibody deficiency at a referral center in Jordan.
The medical records of pediatric patients who were diagnosed as primary antibody deficiency (PAD) during the period from January 2006 to June 2013 were reviewed. Patients were diagnosed as PADs based on the Pan-American Group for Immunodeficiency (PAGID) and the European Society for Immunodeficiency (ESID) diagnostic criteria.
A total number of 53 patients with PAD were identified; 37(70%) males and 16(30%) females, 16(30%) patients with congenital agammaglobulinemia, 16(30%) patients with common variable immunodeficiency, 4(7.5%) patients with IgG subclass deficiency, 10(19%) cases with transient hypogammaglobulinemia of infancy and 7(13.5%) patients as undefined PAD. The most common infection among patients was pneumonia (62%); followed by suppurative otitis media in 49% of patients. Cytopenia was the most noted autoimmune association and was found at prevalence of 22 %, other autoimmune associations (17%) including inflammatory arthritis, discoid lupus, inflammatory bowel disease, vasculitis and celiac disease. The prevalence of long-term complications was 58%, the most frequent ones were; stunted growth in 13%, bronchiectasis and lymphoproliferation in 11% for each.
Our results indicated that congenital agammaglobulinemia and common variable immunodeficiency are the most frequent primary antibody deficiency in our patients. The awareness of families, general population as well as primary health physicians is crucial in the establishment of early diagnosis and prompt commencement of appropriate therapy for PADs.
原发性抗体缺陷是最常见的原发性免疫缺陷病，代表了由B细胞发育任何关键阶段缺陷引起的一系列异质性病症，其特征是正常量抗原特异性抗体的产生受损。
这项回顾性研究旨在描述和分析在约旦一家转诊中心被诊断为原发性抗体缺陷的患者的人口统计学、临床、免疫学特征及并发症。
回顾了2006年1月至2013年6月期间被诊断为原发性抗体缺陷（PAD）的儿科患者的病历。根据泛美免疫缺陷小组（PAGID）和欧洲免疫缺陷协会（ESID）的诊断标准对患者进行PAD诊断。
共确定53例PAD患者；男性37例（70%），女性16例（30%），16例（30%）先天性无丙种球蛋白血症患者，16例（30%）常见可变免疫缺陷患者，4例（7.5%）IgG亚类缺陷患者，10例（19%）婴儿期暂时性低丙种球蛋白血症病例，7例（13.5%）患者为未明确的PAD。患者中最常见的感染是肺炎（62%）；其次是49%的患者发生化脓性中耳炎。血细胞减少是最常见的自身免疫关联，患病率为22%，其他自身免疫关联（17%）包括炎性关节炎、盘状红斑狼疮、炎性肠病、血管炎和乳糜泻。长期并发症的患病率为58%，最常见的是；生长发育迟缓占13%，支气管扩张和淋巴增殖各占11%。
我们的结果表明，先天性无丙种球蛋白血症和常见可变免疫缺陷是我们患者中最常见的原发性抗体缺陷。家庭、普通人群以及初级保健医生的认识对于PAD的早期诊断和及时开始适当治疗至关重要。
