Newborn Screening for Severe Combined Immunodeficiency

Taki, Mohammed; Miah, Tayaba

doi:10.1016/j.iac.2021.07.007

Cited by 8 publications

(6 citation statements)

References 37 publications

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“…A 2020 report reviewed the status of USA NBS for SCID, including methodologies and follow-up practices [ 56 ], and a 2021 review analyzed the way that SCID NBS has changed the disorder presentation and provided important lessons for public health programs, immunologists, and transplant specialists globally [ 57 ]. 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%

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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%

“…Currently, legal issues continue with both sides obtaining wins and losses in the courts and continuing appeals. Michigan researchers have recently published reviews discussing both NBS for SCID [58] and NBS generally [253]. A cost-effectiveness and outcomes study for PKU was reported in 2021 based on new treatments and other new data [254].…”

mentioning

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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“…Hematopoietic stem cell transplantation (HSCT) is the recommended potentially curative treatment for SCID [ 28 , 98 ]. Although lifesaving, HSCT only partially restores immunity, as recovery is a dynamic process [ 99 ].…”

Section: Treatment Of Scidmentioning

confidence: 99%

Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment

Justiz-Vaillant,

Gopaul,

Akpaka

et al. 2023

Microorganisms

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Severe combined immunodeficiency (SCID) is a primary inherited immunodeficiency disease that presents before the age of three months and can be fatal. It is usually due to opportunistic infections caused by bacteria, viruses, fungi, and protozoa resulting in a decrease in number and impairment in the function of T and B cells. Autosomal, X-linked, and sporadic forms exist. Evidence of recurrent opportunistic infections and lymphopenia very early in life should prompt immunological investigation and suspicion of this rare disorder. Adequate stem cell transplantation is the treatment of choice. This review aimed to provide a comprehensive approach to the microorganisms associated with severe combined immunodeficiency (SCID) and its management. We describe SCID as a syndrome and summarize the different microorganisms that affect children and how they can be investigated and treated.

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“…It is now established that early–appropriate PID diagnosis leads to the best treatment options at low costs, and, quality of the patients as well as productivity of the caretakers [3,4,5 ▪▪ ,6]. However, a recent report shows that accessibility and affordability of both diagnostics and treatment for PIDs are still uneven globally [7 ▪▪ ].…”

Section: Challenges In the Diagnosis Of Primary Immunodeficiencies In...mentioning

confidence: 99%

Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

Barugahare

2022

Current Opinion in Pediatrics

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Purpose of reviewPrimary immunodeficiencies (PIDs) lately referred to as inborn errors of immunity, are consequences of mutations that affect the immune integrity and function. Globally, severe PIDs are more common in infants and are fatal if not timely – appropriately diagnosed and managed. PID programmes and policies vary from country to country. The purpose of this review is to highlight PIDs initiatives and activities in Uganda with a focus on challenges and ideas for diagnosis.Recent findingsIt is now established that appropriate PID diagnosis leads to best treatment options for quality of life for the patients. However, there are still global disparities with these great milestones. PID awareness remains a fundamental global challenge. Autoimmune cytopenia, haemogram and peripheral blood film may be critical PIDs diagnostic markers and tests, respectively, for low-income countries.SummaryAs awareness is a master key to appropriate PID diagnosis and management, there is a need to design multidisciplinary and sustainable strategies. Complete blood counts and immunoglobulin profile tests may be less expensive alternatives for early diagnosis of PIDs in Uganda and other low-income countries.

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Newborn Screening for Severe Combined Immunodeficiency

Cited by 8 publications

References 37 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)

Severe Combined Immunodeficiency—Classification, Microbiology Association and Treatment

Challenges in and ideas for diagnosing primary immunodeficiencies in Uganda

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