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)

Special Issue Editors

Guest Editor
Prof. Dr. Lennart Hammarström

Department of Laboratory Medicine, Division of Clinical Immunology, Karolinska University Hospital Huddinge, Stockholm, Sweden
Website | E-Mail
Interests: primary immunodeficiency, genetics, newborn screening
Guest Editor
Dr. Stephan Borte

Department of Laboratory Medicine (LABMED), H5, Division of Clinical Immunology, Karolinska Universitetssjukhuset, Huddinge F79 14186 Stockholm, Sweden
Website | E-Mail
Interests: primary immunodeficiency, pediatrics, genetics, newborn screening

Special Issue Information

Dear Colleagues,

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.

Best regards

Lennart Hammarström and Stephan Borte

Prof. Dr. Lennart Hammarström
Dr. Stephan Borte
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) 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.

Published Papers (1 paper)

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Research

Open AccessArticle Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden
Int. J. Neonatal Screen. 2017, 3(2), 11; doi:10.3390/ijns3020011
Received: 7 April 2017 / Revised: 9 May 2017 / Accepted: 10 May 2017 / Published: 19 May 2017
PDF Full-text (501 KB) | XML Full-text
Abstract
Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,462 newborn
[...] Read more.
Background: Screening newborns for severe combined immunodeficiency (SCID) has become essential, since efficient methods to identify infants with these disorders exist and early stem cell transplantation is life-saving. Method: We performed a three-year screening trial in Stockholm comprised of 89,462 newborn infants. The number of T-cell receptor excision circle (TREC)/kappa-deleting recombination excision circle (KREC)/β-actin (ACTB) copies were quantified simultaneously by real time polymerase chain reaction (PCR) in 3.2 mm punches from dried blood samples taken in the regular neonatal screening program. Results: Five patients with immune deficiencies were identified: two with SCID caused by mutations in the Artemis- and adenosine deaminase gene, respectively, one with ataxia telangiectasia and two with reversible agammagloblinemia, which so far, is of unknown cause. This points to an incidence of SCID at the same level as in other studies (around 1:50,000). In 19 recalled infants, low KREC levels and in one case, also low TREC levels, were caused by immunosuppressive treatment of the mother during pregnancy. The levels normalized within a month in all these infants. The total recall rate was 0.10%, and 40% of the recalled infants were born prematurely (<37 weeks gestation). Among 69 patients with inborn errors of metabolism screened retrospectively, only two, who were severely ill with organic acidemias when the sample was taken, and two with mitochondrial disorders, screened positive. Full article

Planned Papers

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

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