Approaches for Inborn Errors of Immunity in Latin America

  • 217

    Total views and downloads

Participate in this topic

Submit your idea

You will be redirected to our submission process.

Submit your manuscript summarySubmit your manuscript

About this Research Topic

Submission deadlines

  1. Manuscript Summary Submission Deadline 14 June 2025 | Manuscript Submission Deadline 15 November 2025

  2. This Research Topic is still accepting articles.

    1. Check author guidelines

Background

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.

Article types and fees

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

  • Brief Research Report
  • Case Report
  • Classification
  • Clinical Trial
  • Editorial
  • General Commentary
  • Hypothesis and Theory
  • Methods
  • Mini Review

Articles that are accepted for publication by our external editors following rigorous peer review incur a publishing fee charged to Authors, institutions, or funders.

Article types

This Research Topic accepts the following article types, unless otherwise specified in the Research Topic description:

  • Brief Research Report
  • Case Report
  • Classification
  • Clinical Trial
  • Editorial
  • General Commentary
  • Hypothesis and Theory
  • Methods
  • Mini Review
  • Opinion
  • Original Research
  • Perspective
  • Review
  • Systematic Review
  • Technology and Code

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.

Topic editors

Frequently asked questions

  • Frontiers' Research Topics are collaborative hubs built around an emerging theme.Defined, managed, and led by renowned researchers, they bring communities together around a shared area of interest to stimulate collaboration and innovation.

    Unlike section journals, which serve established specialty communities, Research Topics are pioneer hubs, responding to the evolving scientific landscape and catering to new communities.

  • The goal of Frontiers' publishing program is to empower research communities to actively steer the course of scientific publishing. Our program was implemented as a three-part unit with fixed field journals, flexible specialty sections, and dynamically emerging Research Topics, connecting communities of different sizes and maturity.

    Research Topics originate from the scientific community. Many of our Research Topics are suggested by existing editorial board members who have identified critical challenges or areas of interest in their field.

  • As an editor, Research Topics will help you build your journal, as well as your community, around emerging, cutting-edge research. As research trailblazers, Research Topics attract high-quality submissions from leading experts all over the world.

    A thriving Research Topic can potentially evolve into a new specialty section if there is sustained interest and a growing community around it.

  • Each Research Topic must be approved by the specialty chief editor, and it falls under the editorial oversight of our editorial boards, supported by our in-house research integrity team. The same standards and rigorous peer review processes apply to articles published as part of a Research Topic as for any other article we publish.

    In 2023, 80% of the Research Topics we published were edited or co-edited by our editorial board members, who are already familiar with their journal's scope, ethos, and publishing model. All other topics are guest edited by leaders in their field, each vetted and formally approved by the specialty chief editor.

  • Publishing your article within a Research Topic with other related articles increases its discoverability and visibility, which can lead to more views, downloads, and citations. Research Topics grow dynamically as more published articles are added, causing frequent revisiting, and further visibility.

    As Research Topics are multidisciplinary, they are cross-listed in several fields and section journals – increasing your reach even more and giving you the chance to expand your network and collaborate with researchers in different fields, all focusing on expanding knowledge around the same important topic.

    Our larger Research Topics are also converted into ebooks and receive social media promotion from our digital marketing team.

     

  • Frontiers offers multiple article types, but it will depend on the field and section journals in which the Research Topic will be featured. The available article types for a Research Topic will appear in the drop-down menu during the submission process.

    Check available article types here 

  • Yes, we would love to hear your ideas for a topic. Most of our Research Topics are community-led and suggested by researchers in the field. Our in-house editorial team will contact you to talk about your idea and whether you’d like to edit the topic. If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. 

    Suggest your topic here 

  • A team of guest editors (called topic editors) lead their Research Topic. This editorial team oversees the entire process, from the initial topic proposal to calls for participation, the peer review, and final publications.

    The team may also include topic coordinators, who help the topic editors send calls for participation, liaise with topic editors on abstracts, and support contributing authors. In some cases, they can also be assigned as reviewers.

  • As a topic editor (TE), you will take the lead on all editorial decisions for the Research Topic, starting with defining its scope. This allows you to curate research around a topic that interests you, bring together different perspectives from leading researchers across different fields and shape the future of your field. 

     

    You will choose your team of co-editors, curate a list of potential authors, send calls for participation and oversee the peer review process, accepting or recommending rejection for each manuscript submitted.

  • As a topic editor, you're supported at every stage by our in-house team. You will be assigned a single point of contact to help you on both editorial and technical matters. Your topic is managed through our user-friendly online platform, and the peer review process is supported by our industry-first AI review assistant (AIRA).

  • If you’re an early-stage researcher, we will offer you the opportunity to coordinate your topic, with the support of a senior researcher as the topic editor. This provides you with valuable editorial experience, improving your ability to critically evaluate research articles and enhancing your understanding of the quality standards and requirements for scientific publishing, as well as the opportunity to discover new research in your field, and expand your professional network.

  • Yes, certificates can be issued on request. We are happy to provide a certificate for your contribution to editing a successful Research Topic.

  • Research Topics thrive on collaboration and their multi-disciplinary approach around emerging, cutting-edge themes, attract leading researchers from all over the world.

  • As a topic editor, you can set the timeline for your Research Topic, and we will work with you at your pace. Typically, Research Topics are online and open for submissions within a few weeks and remain open for participation for 6 – 12 months. Individual articles within a Research Topic are published as soon as they are ready.

    Find out more about our Research Topics

  • Our fee support program ensures that all articles that pass peer review, including those published in Research Topics, can benefit from open access – regardless of the author's field or funding situation.

    Authors and institutions with insufficient funding can apply for a discount on their publishing fees. A fee support application form is available on our website.

  • In line with our mission to promote healthy lives on a healthy planet, we do not provide printed materials. All our articles and ebooks are available under a CC-BY license, so you can share and print copies.

     

Manuscripts can be submitted to this Research Topic via the main journal or any other participating journal.

Submit your idea

You will be redirected to our submission process.

Submit your manuscript summarySubmit your manuscript

Impact

  • 217Topic views
View impact