Special Issue "Newborn Screening for primary immunodeficiency diseases – Past, Present and Future"
A special issue of International Journal of Neonatal Screening (ISSN 2409-515X).
Deadline for manuscript submissions: closed (15 April 2017)
Newborn screening for primary immunodeficiency is coming of age! Following the seminal paper by Jenifer Puck and her group in 2005, describing the T Cell Receptor Excision Circle assay (TREC), screening of newborns using this assay started in Wisconsin a few years later. During 2017, it is expected that all states in the US will be screening for T cell lymphopenia (as a sign of SCID). National screening using the TREC assay has also been implemented in Taiwan and Israel and pilot trials are ongoing in many additional countries.
The KREC assay, using a similar technology but analyzing B cells (Kappa Receptor Excision Circle assay) was published in 2011 and has been used to identify children with B cell lymphopenia. Subsequently, a combined assay (TREC/KREC/beta actin) was developed for the simultaneous detection of both T and B cell lymphopenia.
Further development of assays for detection of newborn children with various forms of primary immunodeficiency were developed in the following years and discussions on the appropriare use of next generation sequencing methods are currently underway.
This Special Issue (by invitation only) of the International Journal of Neonatal Screening, devoted to “Newborn Screening for primary immunodeficiency diseases – Past, Present and Future”, will thus consider where we have been, where we are, and where we might be going.
Lennart Hammarström and Stephan Borte
Prof. Dr. Lennart Hammarström
Dr. Stephan Borte
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) is waived for well-prepared manuscripts submitted to this issue. 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.
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
Title: SCID screening - How it all began
Author: Jack Routes (USA)
Title: SCID screening in the US
Author: Jennifer Puck
Title: SCID screening in Taiwan
Authors: YH Chien, WI Lee
Title: SCID screening in Israel
Author: Amos Etzioni
Title: SCID screening in Spain (Andalucia)
Author: Olaf Neth
Title: TREC/KREC pilot screening in Sweden
Author: Ulrika von Döbeln
Title: TREC/KREC pilot screening in the Netherlands
Authors: Peter Schielen, Mirjam van der Burg
Title: A roadmap for SCID screening
Author: Bobby Gaspar
Title: Beyond SCID - targeted screening for selected diseases including complement and granulocyte deficiencies
Author: Stephan Borte
Title: Future outlook - targeted gene panels, WES and WGS
Author: Lennart Hammarström