DInur-Schejter Yael, Stepensky Polina
Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel; Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Ein Kerem Medical Center, Jerusalem, Israel.
Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel; Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Ein Kerem Medical Center, Jerusalem, Israel.
Ann Allergy Asthma Immunol. 2022 Jan;128(1):12-18. doi: 10.1016/j.anai.2021.10.001. Epub 2021 Oct 8.
Inborn errors of immunity (IEI) are rare genetic conditions affecting the immune system. The rate of IEI and their presentation, course, and treatment are all affected by a multitude of social determinants, eventually affecting prognosis. This review summarizes the current knowledge of the social determinants affecting infectious susceptibility, genetic predisposition, diagnosis, and treatment of IEI.
PubMed.
Search terms included "consanguinity," "social determinants," and "founder effect." Further studies were selected based on relevant citations.
Changes in climate and human behavior have modulated the spread of disease vectors and infectious organisms. Consanguinity increases the rate of autosomal recessive conditions, changes the distribution, and affects the severity of IEI. Access to sophisticated genetic and immunologic diagnostic modalities affects genetic counseling and timely diagnosis. Effective genetic counseling should address to the patient's genetic background and ethical code. Access to appropriate and timely treatment of immunodeficiencies is scarce in some regions of the world.
High consanguinity rate and reduced access to prophylactic measures increase the burden of immunodeficiencies in many low- and medium-income countries. Furthermore, poor access to diagnostic and treatment modalities in these regions adversely affects patients' prognosis. Increased awareness among health care professionals and the public and increased collaboration with Western countries aid in diagnosis of these conditions. Further advancements require improved public funding to the prevention, diagnosis, and treatment of IEI.
遗传性免疫缺陷病（IEI）是影响免疫系统的罕见遗传病。IEI的发病率及其表现、病程和治疗均受多种社会决定因素的影响，最终影响预后。本综述总结了影响IEI感染易感性、遗传易感性、诊断和治疗的社会决定因素的现有知识。
PubMed。
检索词包括“近亲结婚”“社会决定因素”和“奠基者效应”。根据相关引文选择进一步的研究。
气候和人类行为的变化调节了病媒和传染性生物的传播。近亲结婚增加了常染色体隐性遗传病的发病率，改变了分布，并影响IEI的严重程度。获得先进的基因和免疫诊断方法会影响遗传咨询和及时诊断。有效的遗传咨询应考虑患者的遗传背景和道德规范。在世界某些地区，获得免疫缺陷的适当和及时治疗的机会很少。
在许多低收入和中等收入国家，高近亲结婚率和预防措施的可及性降低增加了免疫缺陷的负担。此外，这些地区诊断和治疗方法的可及性差对患者的预后产生不利影响。提高医疗保健专业人员和公众的认识以及加强与西方国家的合作有助于诊断这些疾病。进一步的进展需要增加对IEI预防、诊断和治疗的公共资金投入。
