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ADA AR unreviewed

Adenosine deaminase deficiency

Purine Degradation (to Uric Acid) Adenosine deaminase

Enzyme or protein defect

Adenosine deaminase

Accumulates or becomes deficient

dATP (inhibits ribonucleotide reductase)

Key features

Severe combined immunodeficiency; absent T, B and NK cells

Management

HSCT, PEG-ADA, gene therapy

Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.

Recent literature

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Europe PMC · fetched just now · sorted by publication date

  1. 1
    A comprehensive review on apoptotic miRNAs and antagomiRs in breast cancer: Enhancing radio sensitization.

    Najafi-Amiri M, Pourhabib-Mamaghani M, Aghaee-Bakhtiari SH, Bahreyni-Toossi MT, Azimian H. · 2026-04-22

    open access unreviewed
  2. 2
    A case of progressive multifocal leukoencephalopathy in an adult patient with ADA-SCID.

    Shin H, Broderick L, Azevedo J, Mulligan C, Hird K, Goodwill V, Parkin C, Mortensen S, Traveller M, Rayes A, … · 2026-07-21

    open access unreviewed
  3. 3
    Expanding Patient Access to Advanced Therapies.

    Guillen E, Hidalgo-Simon A. · 2026-07-21

    open access unreviewed
  4. 4
    Implementation of a dried blood spot-based Newborn screening program for adenosine deaminase deficiency: An initial experience in Japan.

    Kinoshita Y, Kido J, Sawada T, Sugawara K, Mizukami T, Uchiyama T, Yoshida S, Tsuru R, Nakamura K. · 2026-07-13

    unreviewed
  5. 5
    Gene therapy for hereditary hematological disorders: From clinical breakthroughs to future horizons

    Chen Z, Wang W, Wu Y, Qiang Y, Cheng W, Liu F. · 2026-08-27

    open access unreviewed
  6. 6
    Vaccination of children with inborn errors of metabolism: safety, immunogenicity, and practical implications.

    Lipiński P, Jaczewska M, Jackowska T. · 2026-08-27

    open access unreviewed
  7. 7
    Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction.

    Tabakçı SÖ, Akyan Soydaş ŞS, Tuğcu GD, Cinel G, Sağdıç AC, Özçelik U, Can Oksay S, Korkmaz Ç, Zirek F, Kekeç … · 2026-08-01

    unreviewed
  8. 8
    Oncogenesis as an Adverse Effect of Gene Replacement Therapy in Hematopoietic Stem Cells.

    Petrova IO, Smirnikhina SA. · 2026-07-08

    open access unreviewed
  9. 9
    Development, Validation, and Clinical Application of an HPLC-Based Method for Determining Adenosine Deaminase Activity in Adenosine Deaminase Deficiency-Severe Combined Immunodeficiency.

    Petrik M, Litvin E, Osipyants A, Filkova A, Rodina Y, Blinov D, Grachev N, Shcherbina A. · 2026-07-01

    unreviewed
  10. 10
    Synchronous Undifferentiated Embryonal Sarcoma of the Liver and Fibrolamellar Hepatocellular Carcinoma in a Patient with Adenosine Deaminase Deficiency.

    Noyan A, Karaman A, Ilgun Gurel D, Doymaz E, Susam Şen H, Ozcan HN, Yuksel E, Ekinci S, Cagdas D, Orhan D. · 2026-06-12

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.