Yael DInur-Schejter1, Polina Stepensky2. 1. 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. Electronic address: yaelsch@hadassah.org.il. 2. 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.
Abstract
OBJECTIVE: 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. DATA SOURCES: PubMed. STUDY SELECTIONS: Search terms included "consanguinity," "social determinants," and "founder effect." Further studies were selected based on relevant citations. RESULTS: 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. CONCLUSION: 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.
OBJECTIVE: 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. DATA SOURCES: PubMed. STUDY SELECTIONS: Search terms included "consanguinity," "social determinants," and "founder effect." Further studies were selected based on relevant citations. RESULTS: 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. CONCLUSION: 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.