Screening for Primary Immunodeficiency Disorders (PIDDs) in Neonates

  • 23k

    Total downloads

  • 97k

    Total views and downloads

Download PDFDownload EPUB

Submit your idea

Select the journal/section where you want your idea to be submitted:

Submit your manuscript summarySubmit your manuscript

About this Research Topic

Submission closed

Background

Primary immunodeficiencies are intrinsic defects in the immune system that encompass more than 350 disease entities, including phagocyte disorders, complement deficiencies, T cell defects, and antibody deficiencies. They are frequently accompanied by a propensity to autoimmunity and/or immune dysregulation. There are wide variations in the frequency and distribution of PIDDs among populations from different ethnic and geographic backgrounds.

Although infants with Severe Combined Immunodeficiency (SCID) appear healthy at birth, they are at risk of fatal outcome unless diagnosed and treated within the first few months of life. Unfortunately, among these infants only those who have had a recognized family history of SCID, which is fewer than 20% of all cases, could have the diagnosis made early. The early diagnosis of congenital immunodeficiencies, which is essential for optimal management and improved outcomes in terms of organ damage and life-threatening infections, is only possible through institution of population-based neonatal screening. In immunological terms, SCID can be detected early in newborns by quantifying T-cell Receptor Excision Circles (TRECs) in Guthrie card Dried Blood Spots (DBS), which are are small circles of DNA created during the recombination of T-cell receptor genes, using a real time quantitative PCR. Congenital B cell lymphopenia, on the other hand, can be identified by screening for kappa-deleting recombination excision circles (KREC) , the circular by-product of B cell immunoglobulin kappa gene rearrangement in DBS. The advantages for including KREC screening in national programs is to aid in the identification of children with X-linked agammaglobulinemia (XLA), late onset Adenosine Deaminase (ADA) deficiency, some patients with Nijmegen-breakage syndrome (NBS), and other selected forms of PIDDs which may otherwise remain undetected by TREC screening alone. Similarly, the TREC test also has secondary targets including non-SCID immunodeficiencies, in which the circulating naïve T cells are deficient, such as DiGeorge syndrome, trisomy 21 and CHARGE syndrome, as well as non-immune problems such as vascular leakage, chylous effusions or congenital leukemia.

Neonatal screening for PIDDs has been an effective public health measure and a strategy for advancing clinical research. For instance, it has been instrumental in uncovering an unbiased incidence of SCID (1 in 58,000 births), which is significantly higher than the previous estimate (1 in 100,000). Moreover, early diagnosis of PIDDs in patients enables early treatment options such as stem cell transplantation. This Research Topic aims to address the current status, limitations and unmet needs of newborn screening for PIDDs. The scope will comprise all possible immunological measures of screening with attention to cost effectiveness and global applicability across ethnicities and geographies.

We aim to draw the attention of immunologists, health care workers and policy makers towards the urgent global need for neonatal screening for PIDDs. We welcome Original Research articles, Systematic Reviews, Reviews, Mini-reviews, Case Reports, Clinical Trials, and Perspective Articles targeted towards research on screening for SCID, XLA, and other PIDDs including immune dysregulation disorders.

We would particularly like to focus on, but not limit to, the following:

1. Current status, limitations and unmet needs of newborn screening for PIDDs
2. Immunological biomarkers of PIDDs in neonates
3. Novel immunological diagnostic approaches for early detection of PIDDs in neonates such as
  a. TREC and TREC/KREC-based screening
  b. Protein-based biomarker assays
  c. Targeted sequencing
  d. Next generation sequencing including whole genome sequencing
  e. Microscopy-based analysis of immune cells
4. Animal model systems for development of screening methods for PIDDs in neonates
5. Clinical studies covering population-wide applications of these novel screening methods
6. Public health implications of institutionalizing screening for PIDDs in Neonates

Topic Editor Prof. Lennart Hammarström holds equity in ImmunoIVD. All other Topic Editors declare no competing interests with regards to the Research Topic subject.

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.

     

Participating Journals

Impact

  • 97kTopic views
  • 72kArticle views
  • 23kArticle downloads
View impact