Implementation of SCID Screening in Denmark

Bækvad-Hansen, Marie; Adamsen, Dea; Bybjerg‐Grauholm, Jonas; Hougaard, David M.

doi:10.3390/ijns7030054

Cited by 8 publications

(4 citation statements)

References 9 publications

(9 reference statements)

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“…Denmark —In 2020, researchers described expanded NBS in Denmark, the Faroe Islands and Greenland (the reach of the Danish NBS program), by reviewing a project that began in 2002 and ended in 2019 [ 740 , 741 ]. In the interim CF (in 2016) [ 742 ] and SCID (in 2020) [ 743 ] became the 17th and 18th conditions added to the Danish NBS panel, and the first case of CF in a native Inuit was detected through NBS in Greenland [ 744 ]. In preparation for the addition of other conditions, development of a multiplex assay for SCID, SMA, and X-linked agammaglobulinemia (XLA) was reported [ 745 ] along with a MS/MS procedure for galactose-1-phosphate, reportedly superior to the traditional GALT enzyme analysis [ 746 ].…”

Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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Newborn bloodspot screening (NBS) began in the early 1960s based on the work of Dr. Robert “Bob” Guthrie in Buffalo, NY, USA. His development of a screening test for phenylketonuria on blood absorbed onto a special filter paper and transported to a remote testing laboratory began it all. Expansion of NBS to large numbers of asymptomatic congenital conditions flourishes in many settings while it has not yet been realized in others. The need for NBS as an efficient and effective public health prevention strategy that contributes to lowered morbidity and mortality wherever it is sustained is well known in the medical field but not necessarily by political policy makers. Acknowledging the value of national NBS reports published in 2007, the authors collaborated to create a worldwide NBS update in 2015. In a continuing attempt to review the progress of NBS globally, and to move towards a more harmonized and equitable screening system, we have updated our 2015 report with information available at the beginning of 2024. Reports on sub-Saharan Africa and the Caribbean, missing in 2015, have been included. Tables popular in the previous report have been updated with an eye towards harmonized comparisons. To emphasize areas needing attention globally, we have used regional tables containing similar listings of conditions screened, numbers of screening laboratories, and time at which specimen collection is recommended. Discussions are limited to bloodspot screening.

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Section: Resultsmentioning

confidence: 99%

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Therrell,

Padilla,

Borrajo

et al. 2024

IJNS

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“…Patient 1 had no detectable TRECs when screened retrospectively. 4 This suggests that this type of SCID can be identified by neonatal screening. In addition to the identification of these patients in newborn screening, WGS is an important part of diagnostic workup in patients with SCID.…”

Section: E T T E R T O T H E E D I T O R a Novel Dock2 Variant In Sib...mentioning

confidence: 99%

“…Patients with SCID are highly susceptible to early-onset severe infections and have a lethal outcome if not treated with haematopoietic stem cell transplantation (HSCT) or gene therapy early in life. [4][5][6] Whole-genome sequencing (WGS) is useful for identification of gene defects and has proven valuable in the diagnostics of DOCK2-deficient patients presenting with symptoms compatible with SCID. 5,6 Herein, we report two siblings diagnosed with SCID caused by a novel pathogen splice site variant in the DOCK2 in homozygous state, not previously reported in the literature.…”

Section: E T T E R T O T H E E D I T O R a Novel Dock2 Variant In Sib...mentioning

confidence: 99%

“…Retrospective investigation of blood spot test from newborn screening showed non-detectable T cell receptor excision circles (TRECs) in Patient 1. 4 This test was not performed in Patient 2. WGS to screen for potential pathogenic singlenucleotide variants (SNV) and structural variants (SV) was performed, respectively 20, and 16 years after HSCT for the two patients.…”

Section: E T T E R T O T H E E D I T O R a Novel Dock2 Variant In Sib...mentioning

confidence: 99%

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A novel DOCK2 variant in siblings with severe combined immunodeficiency

et al. 2023

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A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity

Assing,

Jørgensen,

Sandgaard

et al. 2023

J Clin Immunol

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Genetic variants in cell division cycle 42 (CDC42) can manifest with dysmorphic features, autoinflammation, hemophagocytic lymphohistiocytosis, and thrombocytopenia, whereas defective thymopoiesis is a rare disease manifestation. We report a novel CDC42 missense variant (c.46A > G, p.Lys16Glu) resulting in infection and HPV-driven carcinogenesis in the mosaic mother and impaired thymopoiesis and profound T cell lymphopenia in the heterozygous daughter identified through newborn screening for SCID. We found that surface expression of IL-7Rα (CD127) was decreased, consistent with reduced IL-7-induced STAT5 phosphorylation and accelerated apoptotic T cell death. Consistent with the vital role of IL-7 in regulating thymopoiesis, both patients displayed reduced T cell receptor CDR3 repertoires. Moreover, the CDC42 variant prevented binding to the downstream effector, p21-activated kinase (PAK)1, suggesting this impaired interaction to underlie reduced IL-7Rα expression and signaling. Here, we provide the first report of severely compromised thymopoiesis and perturbed IL-7Rα signaling caused by a novel CDC42 variant and presenting with diverging clinical and immunological phenotypes in patients.

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Implementation of SCID Screening in Denmark

Abstract: Screening for SCID was added to the Danish Neonatal Screening Program in February 2020. The screening uses a RealtimePCR kit and we here present the results and experiences with the validation of the kit and the first 10 months of screening.

Cited by 8 publications

References 9 publications

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

A novel DOCK2 variant in siblings with severe combined immunodeficiency

A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity

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