KaydedilenlerDerginizi ekleyin

Dergiler / Hitit Medical Journal / 2026 / Cilt: 8 Sayı: 1

Adenozin Deaminaz Tip 2 Eksikliği: Olağandışı Bir Klinik Sunum

Deficiency of Adenosine deaminase Type 2: An Unusual Clinical Presentation

Hanife Ayşegül Arsoy(Department of Pediatric Gastroenterology, Health Science University,Bursa City Hospital,Bursa,Türkiye)0000-0002-3970-0894
Hatice Zeynep Terzi(Sağlık Bilimleri Üniversitesi, Bursa Tıp Fakültesi, Bursa Şehir Eğitim ve Araştırma Hastanesi)0009-0004-9047-859X
Seçil Hasdemir(Department of Pathology, Health Science University,Bursa City Hospital,Bursa,Türkiye)0000-0003-1769-7484
Hatice Güneş(Department of Pediatrics, Pediatric Metabolic Diseases, Behcet Uz Hospital)0000-0002-6940-0964
Şefika Elmas Bozdemir(Department of Pediatric Infectious Diseases, Health Science University,Bursa City Hospital,Bursa,Türkiye)0000-0001-5455-5886
Sayfa
193–199
Yayın Tarihi
2026-02-28
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Conclusion: Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Background: Adenosine deaminase 2(ADA2) deficiency was a systemic autoinflammatory disease characterised by systemic inflammation, vasculitis, early-onset stroke, cytopenias, and immunodeficiency.It is caused by a loss of function due to a mutation in the ADA2 gene and is inherited in an autosomal recessive pattern.Due to its ability to cause early-onset stroke, its vasculitis-like clinical manifestations, and its correlation with immunodeficiency, it is a disease that is difficult to diagnose and treat.
📊
Temel Bulgular & Veri:Case presentation: In this report, we present a case of a 14-year-old with an unusual clinical onset, where the differential diagnosis involved clinical overlap of several diseases, who was diagnosed with a homozygous mutation in the ADA2 gene, and who came with complaints of abdominal swelling and chest pain.
💡
Sonuç & Katkı:Conclusion: Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.
🔬Tür:Olgu Sunumu
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:adenozin deaminaz 2 eksikliği · portal hipertansiyon · kronik karaciğer hastalığı

Özet

Background: Adenosine deaminase 2(ADA2) deficiency was a systemic autoinflammatory disease characterised by systemic inflammation, vasculitis, early-onset stroke, cytopenias, and immunodeficiency.It is caused by a loss of function due to a mutation in the ADA2 gene and is inherited in an autosomal recessive pattern.Due to its ability to cause early-onset stroke, its vasculitis-like clinical manifestations, and its correlation with immunodeficiency, it is a disease that is difficult to diagnose and treat. Case presentation: In this report, we present a case of a 14-year-old with an unusual clinical onset, where the differential diagnosis involved clinical overlap of several diseases, who was diagnosed with a homozygous mutation in the ADA2 gene, and who came with complaints of abdominal swelling and chest pain. Conclusion: Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.

Abstract

Background: Adenosine deaminase 2(ADA2) deficiency was a systemic autoinflammatory disease characterised by systemic inflammation, vasculitis, early-onset stroke, cytopenias, and immunodeficiency.It is caused by a loss of function due to a mutation in the ADA2 gene and is inherited in an autosomal recessive pattern.Due to its ability to cause early-onset stroke, its vasculitis-like clinical manifestations, and its correlation with immunodeficiency, it is a disease that is difficult to diagnose and treat. Case presentation: In this report, we present a case of a 14-year-old with an unusual clinical onset, where the differential diagnosis involved clinical overlap of several diseases, who was diagnosed with a homozygous mutation in the ADA2 gene, and who came with complaints of abdominal swelling and chest pain. Conclusion: Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.

🔖

Bu Makaleye Atıf Yap

Arsoy, H. A., Terzi, H. Z., Hasdemir, S., Güneş, H., Bozdemir, Ş. E. (2026). Adenozin Deaminaz Tip 2 Eksikliği: Olağandışı Bir Klinik Sunum. Hitit Medical Journal, Cilt: 8 Sayı: 1, 193–199. https://doi.org/10.52827/hititmedj.1717440

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (16)

  1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911-920.
  2. Zavialov AV, Yu X, Spillmann D, Lauvau G, Zavialov AV. Structural basis for the growth factor activity of human adenosine deaminase ADA2. J Biol Chem 2010;285:12367-12377.
  3. Iwaki-Egawa S, Yamamoto T, Watanabe Y. Human plasma adenosine deaminase 2 is secreted by activated monocytes. Biol Chem 2006;387:319–321.
  4. Kaljas Y, Liu C, Skaldin M, et al. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells. Cell Mol Life Sci 2017;74:555-570.
  5. Maccora I, Maniscalco V, Campani S, et al. A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review. Orphanet J Rare Dis 2023;18:117.
  6. Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, et al. Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement. JAMA Netw Open 2023;6:e2315894.
  7. Hashem H, Kelly SJ, Ganson NJ, Hershfield MS. Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatologic disorders. Curr Rheumatol Rep 2017;19:70.
  8. Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921-931.
  9. Schnappauf O, Zhou Q, Moura NS, et al. Deficiency of adenosine deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance. J Clin Immunol 2020;40:917-926.
  10. Lee PY, Kellner ES, Huang Y, et al. Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol 2020;145:1664-1672.
  11. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol 2018;38:569–578.
  12. Barron KS, Aksentijevich I, Deuitch NT, et al. The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort. Front Immunol 2021;12:811473.
  13. Hashem H, Bucciol G, Ozen S, et al. Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients. J Clin Immunol 2021;41:1633–1647.
  14. Hashem H, Dimitrova D, Meyts I. Allogeneic hematopoietic cell transplantation for patients with deficiency of adenosine deaminase 2 (DADA2): approaches, obstacles and special considerations. Front Immunol 2022;13:932385.
  15. Ombrello AK, Qin J, Hoffmann PM, et al. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med 2019;380:1582-1584.
  16. Hashem H, Kumar AR, Müller I, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. Blood 2017;130:2682-2688.