Special Issue "Newborn Screening for Severe Combined Immune Deficiency—Selected Papers from the ISNS-SCID Meeting"

A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).

Deadline for manuscript submissions: closed (31 May 2021).

Special Issue Editors

Prof. Dr. Jim R. Bonham
E-Mail
Guest Editor
Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield, S10 2TH, UK
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues and Collections in MDPI journals

Special Issue Information

Dear Colleagues,

Since the US state of Wisconsin first began newborn screening for severe combined immune deficiency (SCID) in 2008, many countries around the world have begun to screen for this important disorder, and it is now more than ten years since it was added to the Recommended Uniform Screening Panel in the USA.

During that time, we have learned much about this condition. The success of bone marrow transplant has improved, and enzyme replacement and gene modification have become part of the treatments that can be offered.

The technology used to screen for this condition has also changed with the growth of real-time PCR, offering the possibility to multiplex other disorders alongside SCID. A wealth of knowledge has been gained during this time concerning the practical operation of screening programs, the use and organization of confirmatory testing, and the range of related disorders identified by the measurement of T-cell receptor excision circles (TRECs) in newborn screening blood spot samples. Analysis of external quality assurance data from 75 participants in 22 countries around the world offers us the possibility to describe assay performance over a number of years.

Early in 2021, a two-day conference drew speakers from around the world including Europe, the USA, and New Zealand to explore and share their combined knowledge. We were able to hear first-hand from clinicians, laboratory scientists working in screening and immunology, and those who have been planning and scrutinizing the implementation of SCID programs in different countries.

In all, 15 international experts drawn from 10 countries were generous enough to share their collective experience to describe the state of the art in newborn screening for SCID, and many of these have agreed to contribute to a Special Issue: Newborn Screening for Severe Combined Immune Deficiency—Selected Papers from the ISNS-SCID Meeting. While we already have submissions for this Special Issue we explicitly invite you to submit your contribution to this important issue-thus, we hope to have an even more complete coverage of neonatal screening for SCID.

Prof. Dr. Jim Bonham
Dr. Peter C.J.I. Schielen
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Neonatal Screening is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers

There is no accepted submissions to this special issue at this moment.
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