Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

Thakar, Monica S.; Logan, Brent R.; Puck, Jennifer M.; Dunn, Elizabeth; Buckley, Rebecca H.; Cowan, Morton J.; O’Reilly, Richard J.; Kapoor, Neena; Satter, Lisa Forbes; Heimall, Jennifer; Chandra, Sharat; Ebens, Christen L.; Chellapandian, Deepak; Williams, Olatundun; Burroughs, Lauri M.; Saldaña, Blachy Dávila; Rayes, Ahmad; Madden, Lisa; Chandrakasan, Shanmuganathan; Bednarski, Jeffrey J.; DeSantes, Kenneth; Cuvelier, Geoffrey D.E.; Teira, Pierre; Gillio, Alfred P.; Eissa, Hesham; Knutsen, Alan P.; Goldman, Frederick D.; Aquino, Victor; Shereck, Evan; Moore, Theodore B.; Caywood, Emi; Lugt, Mark T. Vander; Rozmus, Jacob; Broglie, Larisa; Yu, Lolie C.; Shah, Ami J.; Andolina, Jeffrey R.; Liu, Xuerong; Parrott, Roberta E.; Dara, Jasmeen; Prockop, Susan E.; Martinez, Caridad; Kapadia, Malika; Jyonouchi, Soma; Sullivan, Kathleen E.; Bleesing, Jack J.; Chaudhury, Sonali; Petrović, Aleksandra; Keller, Michael D.; Quigg, Troy C.; Parikh, Suhag; Shenoy, Shalini; Seroogy, Christine M.; Rubin, Tamar; Decaluwe, Hélène; Routes, John M.; Torgerson, Troy R.; Leiding, Jennifer W.; Pulsipher, Michael A.; Kohn, Donald B.; Griffith, Linda M.; Haddad, Élie; Dvorak, Christopher C.; Notarangelo, Luigi D.

doi:10.1016/s0140-6736(23)00731-6

Cited by 35 publications

(3 citation statements)

References 29 publications

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“…A review of the history of SCID NBS discussing SCID subtypes, T-cell receptor excision circle (TREC) assay limitations, and diagnostic/management considerations for infants with a positive NBS was published in 2021 [ 58 ], and in 2022, a report reviewed the success of molecular NBS for SCID and the ability of NBS to determine the SCID population prevalence [ 59 ]. In 2023, the Primary Immune Deficiency Treatment Consortium (PIDTC) reported on a 36-year longitudinal study measuring the effect of NBS on survival after hematopoietic cell transplantation for SCID [ 60 ].…”

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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“…SCID newborn screening (NBS) enables diagnosis shortly after birth in asymptomatic infants by quantifying T lymphocyte receptor excision circles (TREC) in routinely collected dried blood spots (DBS) [ 2 – 4 ]. Universal SCID NBS was first established in the United States (US) [ 5 ] and is being implemented in many other countries [ 6 ], with superior outcomes after HSCT in patients identified through NBS compared to infants diagnosed based on clinical presentation [ 7 ]. Following SCID NBS algorithms, infants with repeatedly abnormal TREC values are referred for confirmatory diagnostic testing by specialist immunology services (Fig.…”

Section: Introductionmentioning

confidence: 99%

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia

Howley,

Soomann,

Kreins

2024

J Clin Immunol

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Congenital athymia is a rare T-lymphocytopaenic condition, which requires early corrective treatment with thymus transplantation (TT). Athymic patients are increasingly identified through newborn screening (NBS) for severe combined immunodeficiency (SCID). Lack of relatable information resources contributes to challenging patient and family journeys during the diagnostic period following abnormal NBS results. Patient and Public Involvement and Engagement (PPIE) activities, including parental involvement in paediatrics, are valuable initiatives to improve clinical communication and parental information strategies. Parents of infants with suspected athymia were therefore invited to discuss the information they received during the diagnostic period following NBS with the aim to identify parental information needs and targeted strategies to address these adequately. Parents reported that athymia was not considered with them as a possible differential diagnosis until weeks after initial NBS results. Whilst appropriate clinical information about athymia and TT was available upon referral to specialist immunology services, improved access to easy-to-understand information from reliable sources, including from clinical nurse specialists and peer support systems, remained desirable. A roadmap concept, with written or digital information, addressing parental needs in real time during a potentially complex diagnostic journey, was proposed and is transferrable to other inborn errors of immunity (IEI) and rare diseases. This PPIE activity provides insight into the information needs of parents of infants with suspected athymia who are identified through SCID NBS, and highlights the role for PPIE in promoting patient- and family-centred strategies to improve IEI care.

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“…Inborn errors of immunity comprise more than 500 monogenic defects that predispose affected individuals to life-threatening infections, autoimmunity, and lymphoproliferation. The diagnosis and treatment of inborn errors of immunity have significantly evolved in the past few decades . Currently, a hematopoietic stem cell transplant (HSCT) is the definitive treatment of many IEIs.…”

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confidence: 99%

Evolution of Gene Therapy for Inborn Errors of Immunity

Somekh,

Hendel,

Somech

2024

JAMA Pediatr

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Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

Cited by 35 publications

References 29 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)

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia

Evolution of Gene Therapy for Inborn Errors of Immunity

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