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Page 1
Recent advances in understanding RAG deficiencies.
Gennery A. Gennery A. F1000Res. 2019 Feb 4;8:F1000 Faculty Rev-148. doi: 10.12688/f1000research.17056.1. eCollection 2019. F1000Res. 2019. PMID: 30800289 Free PMC article. Review.
Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (SCID). Other severe and less-severe clinical phenotypes due to mutations in RAG genes are now recognized. The degree of residual protein func …
Nonsense mutations in RAG1/ RAG2 cause the most profound immunodeficiency syndrome, severe combined immunodeficiency (S …
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM. Puck JM. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. Immunol Rev. 2019. PMID: 30565242 Free PMC article. Review.
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening te …
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screenin …
Review: Why screen for severe combined immunodeficiency disease?
Thomas C, Hubert G, Catteau A, Danielo M, Riche VP, Mahlaoui N, Moshous D, Audrain M. Thomas C, et al. Arch Pediatr. 2020 Nov;27(8):485-489. doi: 10.1016/j.arcped.2020.08.008. Epub 2020 Sep 11. Arch Pediatr. 2020. PMID: 32928653 Review.
Newborn screening for severe combined immunodeficiency (SCID) is now routinely performed in many countries across Europe and around the world. ...Such screening offers the additional benefit of also diagnosing non-SCID lymphopenia within the infant pop …
Newborn screening for severe combined immunodeficiency (SCID) is now routinely performed in many countries across Europe and a …
TREC Based Newborn Screening for Severe Combined Immunodeficiency Disease: A Systematic Review.
van der Spek J, Groenwold RH, van der Burg M, van Montfrans JM. van der Spek J, et al. J Clin Immunol. 2015 May;35(4):416-30. doi: 10.1007/s10875-015-0152-6. Epub 2015 Apr 17. J Clin Immunol. 2015. PMID: 25893636 Free PMC article. Review.
BACKGROUND: Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). In recent years, different screening algorithms for TREC based …
BACKGROUND: Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables earl …
Conditioning regimens for inborn errors of immunity: current perspectives and future strategies.
Nishimura A, Miyamoto S, Imai K, Morio T. Nishimura A, et al. Int J Hematol. 2022 Jul;116(1):7-15. doi: 10.1007/s12185-022-03389-7. Epub 2022 Jun 8. Int J Hematol. 2022. PMID: 35675025 Review.
Hematopoietic cell transplantation (HCT) is indicated for curative therapy especially in patients with IEI who develop fatal opportunistic infections or severe manifestations of immune dysregulation. The first successful HCT for severe combined immunodeficiency (SCI …
Hematopoietic cell transplantation (HCT) is indicated for curative therapy especially in patients with IEI who develop fatal opportunistic i …
Advances in basic and clinical immunology in 2010.
Chinen J, Shearer WT. Chinen J, et al. J Allergy Clin Immunol. 2011 Feb;127(2):336-41. doi: 10.1016/j.jaci.2010.11.042. J Allergy Clin Immunol. 2011. PMID: 21281863 Free PMC article. Review.
The report of an infant with severe combined immunodeficiency (SCID) in Massachusetts detected by means of newborn screening and successfully treated with hematopoietic stem cell transplantation validated recent efforts toward newborn screening for SCID. Improvement …
The report of an infant with severe combined immunodeficiency (SCID) in Massachusetts detected by means of newborn screening a …
When Screening for Severe Combined Immunodeficiency (SCID) with T Cell Receptor Excision Circles Is Not SCID: a Case-Based Review.
Buchbinder D, Walter JE, Butte MJ, Chan WY, Chitty Lopez M, Dimitriades VR, Dorsey MJ, Nugent DJ, Puck JM, Singh J, Collins CA. Buchbinder D, et al. J Clin Immunol. 2021 Feb;41(2):294-302. doi: 10.1007/s10875-020-00931-2. Epub 2021 Jan 7. J Clin Immunol. 2021. PMID: 33411155 Free PMC article. Review.
Newborn screening efforts focusing on the quantification of T cell receptor excision circles (TRECs), as a biomarker for abnormal thymic production of T cells, have allowed for the identification and definitive treatment of severe combined immunodeficiency (SCID) in …
Newborn screening efforts focusing on the quantification of T cell receptor excision circles (TRECs), as a biomarker for abnormal thymic pro …
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiencies Beyond Severe Combined Immunodeficiency.
Freeman AF. Freeman AF. J Pediatric Infect Dis Soc. 2018 Dec 26;7(suppl_2):S79-S82. doi: 10.1093/jpids/piy114. J Pediatric Infect Dis Soc. 2018. PMID: 30590619 Free PMC article. Review.
In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non-SCID primary immunodeficiencies (PIDs) and outside the early childhood period. In addition, potential donor options for non
In recent years, as HSCT conditioning regimens and supportive care have greatly improved, HSCT is gaining in acceptance for more non- …