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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.
SCID screening is now the accepted standard of care in state public health departments across the United States, and it is being adopted in many countries. ...In addition to bringing to attention infants with the primary screening target diseases, typical SCID and leaky SC …
SCID screening is now the accepted standard of care in state public health departments across the United States, and it is being adop …
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 …
Newborn Screening for Severe Combined Immunodeficiency: 10-Year Experience at a Single Referral Center (2009-2018).
Thorsen J, Kolbert K, Joshi A, Baker M, Seroogy CM. Thorsen J, et al. J Clin Immunol. 2021 Apr;41(3):595-602. doi: 10.1007/s10875-020-00956-7. Epub 2021 Jan 7. J Clin Immunol. 2021. PMID: 33409868
In 2008, newborn screening (NBS) for severe combined immunodeficiency (SCID) began as a pilot study in Wisconsin and has recently been added to every state's newborn screen panel. ...Of these referrals, 50% were false positives, 12% were SCID diagnoses, 20% syndromi …
In 2008, newborn screening (NBS) for severe combined immunodeficiency (SCID) began as a pilot study in Wisconsin and has recen …
Nonsevere combined immunodeficiency T-cell lymphopenia identified through newborn screening.
Patrawala M, Kobrynski L. Patrawala M, et al. Curr Opin Allergy Clin Immunol. 2019 Dec;19(6):586-593. doi: 10.1097/ACI.0000000000000586. Curr Opin Allergy Clin Immunol. 2019. PMID: 31490207
There is no standard method for evaluating neonates with non-SCID T-cell lymphopenia (TCL) and no standard approaches to treatment. We will describe these conditions and discuss recommendations for evaluating and follow-up of non-SCID TCL detected by N …
There is no standard method for evaluating neonates with non-SCID T-cell lymphopenia (TCL) and no standard approaches to treat …
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.
Wakamatsu M, Kojima D, Muramatsu H, Okuno Y, Kataoka S, Nakamura F, Sakai Y, Tsuge I, Ito T, Ueda K, Saito A, Morihana E, Ito Y, Ohashi N, Tanaka M, Tanaka T, Kojima S, Nakajima Y, Ito T, Takahashi Y. Wakamatsu M, et al. J Clin Immunol. 2022 Nov;42(8):1696-1707. doi: 10.1007/s10875-022-01335-0. Epub 2022 Jul 28. J Clin Immunol. 2022. PMID: 35902420
For newborns with positive screening results, diagnostic NGS analysis was performed with a 349-gene panel to detect genetic mutations associated with primary immunodeficiencies (PIDs). RESULTS: A total of 145 newborns (0.11%) had abnormal TREC and/or KREC values, and a gen …
For newborns with positive screening results, diagnostic NGS analysis was performed with a 349-gene panel to detect genetic mutations associ …
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Blom M, Zetterström RH, Stray-Pedersen A, Gilmour K, Gennery AR, Puck JM, van der Burg M. Blom M, et al. J Allergy Clin Immunol. 2022 Apr;149(4):1428-1436. doi: 10.1016/j.jaci.2021.08.026. Epub 2021 Sep 16. J Allergy Clin Immunol. 2022. PMID: 34537207 Free PMC article.
BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for severe combined immunodeficiency (SCID) has recently been introduced in many countries. ...The distinction between actionable a …
BACKGROUND: Public health newborn screening (NBS) programs continuously evolve, taking advantage of international shared learning. NBS for s …
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, Agarwal-Hashmi R, Aznar CP, Butte MJ, Cowan MJ, Dorsey MJ, Dvorak CC, Kapoor N, Kohn DB, Markert ML, Moore TB, Naides SJ, Sciortino S, Feuchtbaum L, Koupaei RA, Puck JM. Amatuni GS, et al. Pediatrics. 2019 Feb;143(2):e20182300. doi: 10.1542/peds.2018-2300. Pediatrics. 2019. PMID: 30683812 Free PMC article.
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. ...Of these, 50 cases of SCID, or 1 in 65 000 births (95% confidence interval 1 in 51 000-1 in 90 000) were found. Prompt treatment led to 94% survival. I …
OBJECTIVES: Newborn screening for severe combined immunodeficiency (SCID) was instituted in California in 2010. ...Of these, 5 …
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.
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficiency (SCID) for several decades due to the dismal prognosis early in life without immune reconstitution. In recent years, as HSCT conditi …
Hematopoietic stem cell transplantation (HSCT) has been the standard of care for infants with severe combined immunodeficie …
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel.
Lev A, Sharir I, Simon AJ, Levy S, Lee YN, Frizinsky S, Daas S, Saraf-Levy T, Broides A, Nahum A, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Stein J, Adam E, Hendel A, Marcus N, Almashanu S, Somech R. Lev A, et al. J Allergy Clin Immunol Pract. 2022 Oct;10(10):2722-2731.e9. doi: 10.1016/j.jaip.2022.04.013. Epub 2022 Apr 26. J Allergy Clin Immunol Pract. 2022. PMID: 35487367
BACKGROUND: Implementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced the diagnosis and management of affected infants and undoubtedly improved their outcomes. ...Flow cytometry immune-phenotyping, T cell receptor e …
BACKGROUND: Implementation of newborn screening (NBS) programs for severe combined immunodeficiency (SCID) have advanced the d …
Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth.
Chan SB, Zhong Y, Lim SCJ, Poh S, Teh KL, Soh JY, Chong CY, Thoon KC, Seng M, Tan ES, Arkachaisri T, Liew WK. Chan SB, et al. Front Immunol. 2022 Jan 3;12:794221. doi: 10.3389/fimmu.2021.794221. eCollection 2021. Front Immunol. 2022. PMID: 35046952 Free PMC article.
INTRODUCTION: Severe Combined Immunodeficiency (SCID) is generally fatal if untreated; it predisposes to severe infections, including disseminated Bacille-Calmette-Guerin (BCG) disease from BCG vaccination at birth. ...RESULTS: Of the 35888 newborns screened in 1 ye …
INTRODUCTION: Severe Combined Immunodeficiency (SCID) is generally fatal if untreated; it predisposes to severe infections, in …
20 results