Severe combined immunodeficiency in set of patients from national institute of children’s diseases
Authors:
V. Urdová 1; J. Horáková 1; P. Švec 1; I. Boďová 1; S. Šufliarska 1; M. Makohusová 1; D. Dóczyová 1; M. Pozdechová 1; A. Kolenova 1; M. Jeseňák 3; A. Šoltýsová 4; A. Ficek 4; Z. Tkáčová Tomečková 4; P. Čižnár 2
Authors‘ workplace:
Transplantačná jednotka kostnej drene Kliniky detskej hematológie a onkológie, NÚDCH, Bratislava, Slovensko
1; Detská klinika NÚDCH a LF Univerzity Komenského, Bratislava, Slovensko
2; Centrum pre vrodené poruchy imunity, Klinika detí a dorastu, Jesseniova lekárska fakulty v Martine, Univerzita Komenského, v Bratislave, Univerzitná nemocnica Martin, Slovensko
3; Katedra molekulárnej biológie Prírodovedeckej fakulty UK, Bratislava, Slovensko
4
Published in:
Čes-slov Pediat 2021; 76 (4): 184-193.
Category:
Overview
Severe combined immunodeficiency (SCID) is a life-threatening condition characterized by impaired cellular and humoral immune responses. SCID represents one of the most severe forms of primary immunodeficiency (PID) disorders. As a result of severe infection can lead to early infant death.
Objective: The aim of the study was to analyze the individual characteristics in the group of patients with SCID in Slovakia and to evaluate the results of treatment with hematopoietic stem cell transplantation in order to map the overall state of diagnosis, therapy and prognosis of patients diagnosed with SCID.
Methods: In clinical part we have retrospectively evaluated the group of pediatric patients with severe combined immunodeficiency. In the period of 15 years (2003–2017), a total of 16 patients with SCID were treated in National Institute of Children´s Diseases. Of the 16 patients 11 underwent hematopoetic stem cell transplantation.
Results: 2-year overall survival rate of children with SCID was 68.8%. Genetic defect was confirmed in 13 children with IL2RG as the most common mutation. The median age at the diagnosis was 122 days which was associated with higher incidence of infection before HSCT. Infection before HSCT was confirmed in 73% of patients. Due to infectious complications four patients died before HSCT. 100% patients had absence of TREC episomes which was eluated by analysis of dry blood spots. 2-year overall survival rate of children after HSCT was 90.9%.
Conclusion: Early diagnosis of SCID, before the onset of severe infections, increases the chances of getting the patients safely to HSCT. The TREC diagnosis in our sample confirmed the excellent sensitivity and specificity of the method and its implementation in neonatal screening, following the example of many countries around the world, would be beneficial in improving the morbidity and mortality of patients diagnosed with SCID. Until its introduction it is necessary to streamline early diagnosis based on characteristic clinical symptoms and the subsequent centralization of patients into centers with experience in the treatment of SCID patients.
Keywords:
severe combined immunodeficiency – hematopoietic stem cell transplantation – TREC – early diagnosis – survival
Sources
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2021 Issue 4
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