Early diagnosis of severe combined immunodeficiency (SCID) in Turkey: a pilot study

Can, Ceren; Hamilçıkan, Şahin; Can, Emrah

doi:10.1080/14767058.2017.1368075

Cited by 3 publications

(5 citation statements)

References 14 publications

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“…The only study investigating neonatal screening for SCID in Turkey, which involved assessing lymphocyte counts in the cord blood of 2500 newborns, identified nine cases of lymphopenia 18 . However, the lymphocyte counts of these nine patients were reassessed 1 month after birth, and none of them was lymphopaenic.…”

Section: Discussionmentioning

confidence: 99%

“…6 The only study investigating neonatal screening for SCID in Turkey, which involved assessing lymphocyte counts in the cord blood of 2500 newborns, identified nine cases of lymphopenia. 18 However, the lymphocyte counts of these nine patients were reassessed 1 month after birth, and none of them was lymphopaenic. Although the authors claimed that detecting lymphopenia might be useful in countries where TREC analysis is not available, the method is associated with a high rate of false-positive results and, consequently, can be misleading.…”

Section: Discussionmentioning

confidence: 99%

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Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Şentürk

Eltan³

et al. 2022

Scand J Immunol

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T cell receptor excision circles (TRECs) and kappa‐deleting excision circles (KRECs) are DNA fragments potentially indicative of T and B cell development, respectively. Recent thymic emigrants (RTEs) are a subset of peripheral cells that may also represent thymic function. Here, we investigated TREC/KREC copy numbers by quantitative real‐time PCR in the peripheral blood of patients with primary immunodeficiencies (PIDs, n = 145) and that of healthy controls (HCs, n = 86) and assessed the correlation between RTEs and TREC copy numbers. We found that TREC copy numbers were significantly lower in children and adults with PIDs (P < .0001 and P < .002, respectively) as compared with their respective age‐matched HCs. A moderate correlation was observed between TREC copies and RTE numbers among children with PID (r = .5114, P < .01), whereas no significant correlation was detected between RTE values and TREC content in the HCs (r = .0205, P = .9208). Additionally, we determined TREC and KREC copy numbers in DNA isolated from the Guthrie cards of 200 newborns and showed that this method is applicable to DNA isolated from both peripheral blood samples and dried blood spots, with the two sample types showing comparable TREC and KREC values. We further showed that RTE values are not always reliable markers of T cell output. Although additional confirmatory studies with larger cohorts are needed, our results provide thresholds for TREC/KREC copy numbers for different age groups.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Şentürk

Eltan³

et al. 2022

Scand J Immunol

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“…2,13,14 TRECs count reflects T cell levels and significant benefits have been gained in the diagnosis of SCID by introduction of TRECs in SCID screening programs with high sensitivity and specificity. [15][16][17] Preliminary data from U.S. screening program suggest that 1 of 30,000 to 50,000 infant can have SCID. Our country and such countries with a high rate of consanguineous marriage (Saudi Arabia and Kuwait) data revealed higher numbers than United States.…”

Section: Discussionmentioning

confidence: 99%

“…18 Nowadays, the most powerful also highly specific and sensitive for neonatal SCID scan is TRECs reflecting the T-cell count. [15][16][17] This test, which has been used for a long time in the United States, is still not in routine neonatal screening programs in developing countries. Therefore, researchers in these countries use cheaper and more common methods such as ALC detection by CBC for SCID scan.…”

Section: Discussionmentioning

confidence: 99%

Neonatal Lymphopenia Screening Is Important for Early Diagnosis of Severe Combined Immunodeficiency

et al. 2021

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Objective T-cell receptor excision circles are expensive for neonatal severe combined immunodeficiency screening in developing countries. We aimed to detect immunodeficiencies presenting with lymphopenia to enable screening in the general population and to improve awareness regarding lymphopenia among clinicians. Study Design This study was conducted prospectively. In all newborns included, complete blood count from umbilical cord blood samples was recorded. Absolute lymphopenia was defined as absolute lymphocyte count <3,000/mm3 in umbilical cord blood sample. Complete blood count was repeated at month 1 in cases found to have lymphopenia. Results Overall, 2,000 newborns were included in the study. Absolute lymphopenia was detected in 42 newborns (2.1%), while lymphocyte count was >3,000/mm3 in 1,958 newborns (97.9%). Two infants with persisted lymphopenia at the end of the first month; therefore, further evaluations such as lymphocyte subsets for severe combined immunodeficiency (SCID) were done. In the first infant, the lymphocyte subgroups were detected as compatible with T (−), B (−), natural killer cells (NK) (+) SCID phenotype RAG defect. Sanger sequencing revealed that NM_000448 c.2209C > T (p.R737C) homozygous mutation of RAG1 gene. In the other infant, the lymphocyte subgroups were found as considered with T (−), B (+) NK (−) SCID phenotype JAK3 defect. Both patients underwent hematopoietic stem cell transplantation from human leukocyte antigen-matched family member. Conclusion Absolute lymphopenia by complete blood count is a more simpler, relatively noninvasive and inexpensive screening methodfor detection of SCID in newborns compared with T-cell receptor excision circles technique. Key Points

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“…Similar to other countries [19][20][21][22][23], the Netherlands started a prospective implementation pilot study (SONNET-study) in April 2018, focusing on parental perspective, cost-effectiveness, and practical implications for screening, diagnostics, and clinical follow-up. As parents are important stakeholders in NBS, their support is paramount.…”

Section: Introductionmentioning

confidence: 99%

Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

et al. 2020

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Purpose While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs. Methods To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID. Results Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision. Conclusion The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs’ stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.

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Early diagnosis of severe combined immunodeficiency (SCID) in Turkey: a pilot study

Abstract: Absolute lymphopenia detected using CBC analysis is a simple, easier, more non-invasive, and cheaper method than the TREC method for detection of SCID neonates, and this method may prove to be a useful alternative, especially in developing countries.

Cited by 3 publications

References 14 publications

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controls

Neonatal Lymphopenia Screening Is Important for Early Diagnosis of Severe Combined Immunodeficiency

Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

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