Journal of Child

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Research Article


DOI :10.26650/jchild.2024.1584011   IUP :10.26650/jchild.2024.1584011    Full Text (PDF)

Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience

Sevgi Bilgic Eltan, Selcen Bozkurt, Asena Pınar Sefer, Ezgi Yalçın Güngören, Melek Yorgun Altunbaş, Salim Can, Razin Amirov, Necmiye Öztürk, Safa Barış, Ahmet Özen, Elif Karakoç Aydıner

Objective: This study aimed to evaluate the clinical, immunological, and prognostic features of seven patients diagnosed with Adenosine Deaminase Deficiency Severe Combined Immunodeficiency (ADA-SCID) at Marmara University. The aim of this study was to enhance the recognition and management of this condition, which is characterized by impaired lymphocyte development and early severe infections.

Methods: This retrospective study included seven patients with ADA-SCIDs who were monitored from 2012 to 2024. Patient data, including demographics, clinical findings, laboratory results, and imaging, were retrieved from hospital records. Diagnostic criteria focused on ADA enzyme activity and genetic mutations. Treatment regimens, such as immunoglobulin replacement, antimicrobial prophylaxis, enzyme replacement therapy, and hematopoietic stem cell transplantation (HSCT), were documented. Statistical analyses were performed using descriptive methods.

Results: The cohort (6 males, 1 female) presented a median age at diagnosis of 3 months. Consanguinity was observed in 86% of cases. Key symptoms included lymphopenia, recurrent infections, thymus absence, and systemic manifestations. Six patients received HSCT, and two underwent matched donor transplantation. One patient received gene therapy because of the absence of a matched donor. Opportunistic infections were prevalent, including cytomegalovirus and recurrent skin infections noted. Overall, two patients died of post-HSCT complications.

Conclusions: ADA-SCID is a life-threatening condition characterized by early severe infections and systemic manifestations. Early diagnosis and tailored treatment, including HSCT and gene therapy, are essential for improving survival outcomes. This study emphasizes the importance of early diagnosis to improve the survival and management outcomes of patients with ADA-SCID.

Keywords: Adenosine Deaminase Deficiency, Child, Hematopoietic Stem Cell Transplantation Inborn Errors of Immunity, Lymphopenia, Severe Combined İmmunodeficiency

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APA

Bilgic Eltan, S., Bozkurt, S., Sefer, A.P., Yalçın Güngören, E., Yorgun Altunbaş, M., Can, S., Amirov, R., Öztürk, N., Barış, S., Özen, A., & Karakoç Aydıner, E. (2024). Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience. Journal of Child, 24(4), 219-225. https://doi.org/10.26650/jchild.2024.1584011


AMA

Bilgic Eltan S, Bozkurt S, Sefer A P, Yalçın Güngören E, Yorgun Altunbaş M, Can S, Amirov R, Öztürk N, Barış S, Özen A, Karakoç Aydıner E. Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience. Journal of Child. 2024;24(4):219-225. https://doi.org/10.26650/jchild.2024.1584011


ABNT

Bilgic Eltan, S.; Bozkurt, S.; Sefer, A.P.; Yalçın Güngören, E.; Yorgun Altunbaş, M.; Can, S.; Amirov, R.; Öztürk, N.; Barış, S.; Özen, A.; Karakoç Aydıner, E. Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience. Journal of Child, [Publisher Location], v. 24, n. 4, p. 219-225, 2024.


Chicago: Author-Date Style

Bilgic Eltan, Sevgi, and Selcen Bozkurt and Asena Pınar Sefer and Ezgi Yalçın Güngören and Melek Yorgun Altunbaş and Salim Can and Razin Amirov and Necmiye Öztürk and Safa Barış and Ahmet Özen and Elif Karakoç Aydıner. 2024. “Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience.” Journal of Child 24, no. 4: 219-225. https://doi.org/10.26650/jchild.2024.1584011


Chicago: Humanities Style

Bilgic Eltan, Sevgi, and Selcen Bozkurt and Asena Pınar Sefer and Ezgi Yalçın Güngören and Melek Yorgun Altunbaş and Salim Can and Razin Amirov and Necmiye Öztürk and Safa Barış and Ahmet Özen and Elif Karakoç Aydıner. “Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience.” Journal of Child 24, no. 4 (Mar. 2025): 219-225. https://doi.org/10.26650/jchild.2024.1584011


Harvard: Australian Style

Bilgic Eltan, S & Bozkurt, S & Sefer, AP & Yalçın Güngören, E & Yorgun Altunbaş, M & Can, S & Amirov, R & Öztürk, N & Barış, S & Özen, A & Karakoç Aydıner, E 2024, 'Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience', Journal of Child, vol. 24, no. 4, pp. 219-225, viewed 10 Mar. 2025, https://doi.org/10.26650/jchild.2024.1584011


Harvard: Author-Date Style

Bilgic Eltan, S. and Bozkurt, S. and Sefer, A.P. and Yalçın Güngören, E. and Yorgun Altunbaş, M. and Can, S. and Amirov, R. and Öztürk, N. and Barış, S. and Özen, A. and Karakoç Aydıner, E. (2024) ‘Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience’, Journal of Child, 24(4), pp. 219-225. https://doi.org/10.26650/jchild.2024.1584011 (10 Mar. 2025).


MLA

Bilgic Eltan, Sevgi, and Selcen Bozkurt and Asena Pınar Sefer and Ezgi Yalçın Güngören and Melek Yorgun Altunbaş and Salim Can and Razin Amirov and Necmiye Öztürk and Safa Barış and Ahmet Özen and Elif Karakoç Aydıner. “Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience.” Journal of Child, vol. 24, no. 4, 2024, pp. 219-225. [Database Container], https://doi.org/10.26650/jchild.2024.1584011


Vancouver

Bilgic Eltan S, Bozkurt S, Sefer AP, Yalçın Güngören E, Yorgun Altunbaş M, Can S, Amirov R, Öztürk N, Barış S, Özen A, Karakoç Aydıner E. Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience. Journal of Child [Internet]. 10 Mar. 2025 [cited 10 Mar. 2025];24(4):219-225. Available from: https://doi.org/10.26650/jchild.2024.1584011 doi: 10.26650/jchild.2024.1584011


ISNAD

Bilgic Eltan, Sevgi - Bozkurt, Selcen - Sefer, AsenaPınar - Yalçın Güngören, Ezgi - Yorgun Altunbaş, Melek - Can, Salim - Amirov, Razin - Öztürk, Necmiye - Barış, Safa - Özen, Ahmet - Karakoç Aydıner, Elif. “Evaluation of Patients with Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency: A Single-Center Experience”. Journal of Child 24/4 (Mar. 2025): 219-225. https://doi.org/10.26650/jchild.2024.1584011



TIMELINE


Submitted17.11.2024
Accepted02.01.2025

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