{"title":"原发性抗体缺乏症。","authors":"Ashley T Nguyen, Marcella R Aquino","doi":"10.2500/aap.2024.45.240052","DOIUrl":null,"url":null,"abstract":"<p><p>Primary antibody deficiencies are characterized by the inability to effectively produce antibodies and may involve defects in B-cell development or maturation. Primary antibody deficiencies can occur at any age, depending on the disease pathology. Certain primary antibody deficiencies affect males and females equally, whereas others affect males more often. Patients typically present with recurrent sinopulmonary and gastrointestinal infections, and some patients can experience an increased risk of opportunistic infections. Multidisciplinary collaboration is important in the management of patients with primary antibody deficiencies because these patients require heightened monitoring for atopic, autoimmune, and malignant comorbidities and complications. The underlying genetic defects associated with many primary antibody deficiencies have been discovered, but, in some diseases, the underlying genetic defect and inheritance are still unknown. The diagnosis of primary antibody deficiencies is often made through the evaluation of immunoglobulin levels, lymphocyte levels, and antibody responses. A definitive diagnosis is obtained through genetic testing, which offers specific management options and may inform future family planning. Treatment varies but generally includes antibiotic prophylaxis, vaccination, and immunoglobulin replacement. Hematopoietic stem cell transplantation is also an option for certain primary antibody deficiencies.</p>","PeriodicalId":7646,"journal":{"name":"Allergy and asthma proceedings","volume":"45 5","pages":"310-316"},"PeriodicalIF":2.6000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Primary antibody deficiencies.\",\"authors\":\"Ashley T Nguyen, Marcella R Aquino\",\"doi\":\"10.2500/aap.2024.45.240052\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Primary antibody deficiencies are characterized by the inability to effectively produce antibodies and may involve defects in B-cell development or maturation. Primary antibody deficiencies can occur at any age, depending on the disease pathology. Certain primary antibody deficiencies affect males and females equally, whereas others affect males more often. Patients typically present with recurrent sinopulmonary and gastrointestinal infections, and some patients can experience an increased risk of opportunistic infections. Multidisciplinary collaboration is important in the management of patients with primary antibody deficiencies because these patients require heightened monitoring for atopic, autoimmune, and malignant comorbidities and complications. The underlying genetic defects associated with many primary antibody deficiencies have been discovered, but, in some diseases, the underlying genetic defect and inheritance are still unknown. The diagnosis of primary antibody deficiencies is often made through the evaluation of immunoglobulin levels, lymphocyte levels, and antibody responses. A definitive diagnosis is obtained through genetic testing, which offers specific management options and may inform future family planning. Treatment varies but generally includes antibiotic prophylaxis, vaccination, and immunoglobulin replacement. Hematopoietic stem cell transplantation is also an option for certain primary antibody deficiencies.</p>\",\"PeriodicalId\":7646,\"journal\":{\"name\":\"Allergy and asthma proceedings\",\"volume\":\"45 5\",\"pages\":\"310-316\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Allergy and asthma proceedings\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2500/aap.2024.45.240052\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Allergy and asthma proceedings","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2500/aap.2024.45.240052","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"ALLERGY","Score":null,"Total":0}
引用次数: 0
摘要
原发性抗体缺乏症的特点是不能有效地产生抗体,可能涉及 B 细胞发育或成熟的缺陷。原发性抗体缺乏症可发生于任何年龄,这取决于疾病的病理类型。某些原发性抗体缺乏症对男性和女性的影响相同,而其他原发性抗体缺乏症对男性的影响更大。患者通常会出现反复的鼻窦肺部和胃肠道感染,有些患者还可能增加机会性感染的风险。在治疗原发性抗体缺乏症患者时,多学科协作非常重要,因为这些患者需要加强对特应性、自身免疫性和恶性合并症及并发症的监测。与许多原发性抗体缺乏症相关的潜在基因缺陷已经被发现,但在某些疾病中,潜在的基因缺陷和遗传仍然未知。原发性抗体缺乏症的诊断通常是通过评估免疫球蛋白水平、淋巴细胞水平和抗体反应来进行的。通过基因检测可获得明确诊断,从而提供具体的治疗方案,并为未来的计划生育提供依据。治疗方法各不相同,但一般包括抗生素预防、疫苗接种和免疫球蛋白替代。造血干细胞移植也可用于某些原发性抗体缺乏症。
Primary antibody deficiencies are characterized by the inability to effectively produce antibodies and may involve defects in B-cell development or maturation. Primary antibody deficiencies can occur at any age, depending on the disease pathology. Certain primary antibody deficiencies affect males and females equally, whereas others affect males more often. Patients typically present with recurrent sinopulmonary and gastrointestinal infections, and some patients can experience an increased risk of opportunistic infections. Multidisciplinary collaboration is important in the management of patients with primary antibody deficiencies because these patients require heightened monitoring for atopic, autoimmune, and malignant comorbidities and complications. The underlying genetic defects associated with many primary antibody deficiencies have been discovered, but, in some diseases, the underlying genetic defect and inheritance are still unknown. The diagnosis of primary antibody deficiencies is often made through the evaluation of immunoglobulin levels, lymphocyte levels, and antibody responses. A definitive diagnosis is obtained through genetic testing, which offers specific management options and may inform future family planning. Treatment varies but generally includes antibiotic prophylaxis, vaccination, and immunoglobulin replacement. Hematopoietic stem cell transplantation is also an option for certain primary antibody deficiencies.
期刊介绍:
Allergy & Asthma Proceedings is a peer reviewed publication dedicated to distributing timely scientific research regarding advancements in the knowledge and practice of allergy, asthma and immunology. Its primary readership consists of allergists and pulmonologists. The goal of the Proceedings is to publish articles with a predominantly clinical focus which directly impact quality of care for patients with allergic disease and asthma. Featured topics include asthma, rhinitis, sinusitis, food allergies, allergic skin diseases, diagnostic techniques, allergens, and treatment modalities. Published material includes peer-reviewed original research, clinical trials and review articles.