VALUE OF TREC LEVELS IN THE DIAGNOSIS OF PRIMARY IMMUNODEFICIENCY IN CHILDREN

Nguyễn Huy Khánh1,, Nguyễn Thị Vân Anh1, Hoàng Hải Yến2
1 Vietnam National Children's Hospital
2 Hanoi Obstetrics and Pediatrics Hospital

Main Article Content

Abstract

Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency,  causes severe infections in many organs and early death in the second years of life. The disease can be diagnosed early through quantitative testing of T cell receptor excision circles (TREC) from peripheral blood samples. Early diagnosis leads to early treatment and increased survival in patients. Objectives: To investigate the concentration of TREC in newborns and detect children at high risk of SCID at Hanoi Obstetrics and Gynecology Hospital. Subjective: 47620 children were tested for TREC, of ​​which 12 children had high-risk TREC levels. Methods: A descriptive study with a combination of retrospective and prospective case series. Results: Median TREC concentration 104,0cp/µL. The median TREC concentration in boys was 98,3cp/µL and in girls 111,0cp/µL. TREC concentration tends to increase with gestational weeks, the highest in the group from 28 to less than 32 weeks of gestation: the median value is 113,0cp/µL. Eight out of 12 children with TREC screening results < 24cp/µL, who came to the Vietnam National Children’s Hospital, 2 patients were diagnosed with SCID by genetic analysis, equivalent to the rate SCID in the study population 4,2/100000 live births. Conclusion: SCID screening by quantitative TREC test method is an effective method, helping to detect high-risk patients early, and should be widely implemented.

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References

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