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
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