About this Research Topic
Human inborn errors of immunity (IEI) also referred as primary immune deficiencies (PID) are a heterogeneous group of monogenic disorders affecting the immune system that predispose not only to an abnormal susceptibility to a broad or narrow spectrum of infectious agents, but also to autoinflammation, autoimmunity, allergy and/or malignancies. Historically, IEI have been regarded as rare diseases, however, the arrival of new technologies in gene sequencing, has endure the discovery of new genetic lesions at an unprecedent rate. The latter has currently allowed that the prevalence of IEI has now been estimated between 1/1000-5000 individuals, which means that over 6 million people may be suffering from these disorders, among which, close to 90% remain undiagnosed. Until the last updated phenotypic classification of (IEI), dated in 2022, there are 485 monogenic phenotypes encompassing diverse, and sometimes overlapping, clinical manifestations that has been necessary to classify them in 10 different categories. Beyond the discoveries of new genetic entities as causative of diseases affecting immune system, IEI also have emerged as unique and invaluable approach to increase our knowledge of how immune system works under specific scenarios. A better understanding of the cellular and molecular mechanisms that govern the function of the immune system is crucial for improving diagnosis and treatment of patients.
The advance, not only in discovering of genetic variants, but also in diagnosis and treatment of IEI has been outstanding in the last three decades. However, important challenges remain to be addressed. One of the main challenges has to do with making known the way in which innate errors of immunity are addressed in emerging countries such as those concentrated in Latin America, which has approximately over 600 million inhabitants. Different approaches have been adopted, from those involving epidemiological aspects to those involved in obtaining diagnoses and applying treatments, passing through specific areas such as the construction and conservation of large genetic databases to ensure that Latin American groups can participate in the known and unknown future benefits of scientific research.
A breakthrough took place in 1993, when the Latin America society for immunodeficiencies (LASID) was created to face the challenges in following the progress in different areas encompassing IEI. Moreover, since 2011 the Jeffery Modell Foundation (JMF) has set up reference centers in five countries. However, there are currently few studies that update the advances achieved in Latin America. Hence, the main problem we would like to address in this Research Topic is to know the current state of the art in several strategic areas at the diagnostic, epidemiological, clinical and basic research levels, as well as treatments.
The scope of this Research Topic is to provide a more precise understanding of the various advances in how IEI are approached in Latin America. With that aim, we want to compile a collection of multidisciplinary studies exploring different areas of knowledge including novel epidemiological, clinical and basic research. We welcome the submission of Original Research, Review, Mini-Review, Methods, Case report, and Perspective articles that cover, but are not limited to the following topics:
--Monogenic defects that influence susceptibility to infections, autoimmunity, inflammatory syndromes or malignancies.
--Description of clinical signatures in patients with IEI.
--Description of novel genetic variants and their pathophysiological mechanisms across IEI.
--Molecular diagnostics of patients with suspected monogenic defects.
--Genetics and newborn screening for IEI.
--Design and implementation of novel strategies to enhance awareness of inborn error of immunity among health professionals.
--Management, surveillance and therapeutics for patients with IEI.
Please note that manuscripts without a strong immunological focus are out of scope for this section.
The advance, not only in discovering of genetic variants, but also in diagnosis and treatment of IEI has been outstanding in the last three decades. However, important challenges remain to be addressed. One of the main challenges has to do with making known the way in which innate errors of immunity are addressed in emerging countries such as those concentrated in Latin America, which has approximately over 600 million inhabitants. Different approaches have been adopted, from those involving epidemiological aspects to those involved in obtaining diagnoses and applying treatments, passing through specific areas such as the construction and conservation of large genetic databases to ensure that Latin American groups can participate in the known and unknown future benefits of scientific research.
A breakthrough took place in 1993, when the Latin America society for immunodeficiencies (LASID) was created to face the challenges in following the progress in different areas encompassing IEI. Moreover, since 2011 the Jeffery Modell Foundation (JMF) has set up reference centers in five countries. However, there are currently few studies that update the advances achieved in Latin America. Hence, the main problem we would like to address in this Research Topic is to know the current state of the art in several strategic areas at the diagnostic, epidemiological, clinical and basic research levels, as well as treatments.
The scope of this Research Topic is to provide a more precise understanding of the various advances in how IEI are approached in Latin America. With that aim, we want to compile a collection of multidisciplinary studies exploring different areas of knowledge including novel epidemiological, clinical and basic research. We welcome the submission of Original Research, Review, Mini-Review, Methods, Case report, and Perspective articles that cover, but are not limited to the following topics:
--Monogenic defects that influence susceptibility to infections, autoimmunity, inflammatory syndromes or malignancies.
--Description of clinical signatures in patients with IEI.
--Description of novel genetic variants and their pathophysiological mechanisms across IEI.
--Molecular diagnostics of patients with suspected monogenic defects.
--Genetics and newborn screening for IEI.
--Design and implementation of novel strategies to enhance awareness of inborn error of immunity among health professionals.
--Management, surveillance and therapeutics for patients with IEI.
Please note that manuscripts without a strong immunological focus are out of scope for this section.
Keywords: Inborn Errors of Immunity, infection susceptibility, Diagnostic and Intervention, Epidemiology, inflammatory syndromes, autoimmunity
Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.
