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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
    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
  2. 2
    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
  3. 3
    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
  4. 4
    Leptospirosis-associated meningitis in an urban tropical endemic setting in northeastern Brazil: Three New cases and a meta-summary of 176 reported cases.

    Gadelha Farias LAB, Neto OMV, Sobrinho EPL, de Almeida Vale CL, Júnior GBS, de Francesco Daher E, de Alcântar… · 2026-05-11

    open access unreviewed
  5. 5
    Outlook of Cell Gene Therapies Development and Approval from Quality and Regulatory Perspective.

    Iglesias-Lopez C, Vallano A, Agustí A. · 2026-02-12

    cited 2× open access unreviewed
  6. 6
    Reassessing AXP depletion due to inherited deficiency of adenosine deaminase 1.

    Bali P, Kelly SJ, Santisteban I, Arredondo-Vega FX, Frelinger K, Rampersad R, Tarrant TK, Hershfield MS. · 2026-01-20

    unreviewed
  7. 7
    Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders.

    Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian C… · 2026-03-19

    open access unreviewed
  8. 8
    Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.

    Betesh-Abay B, Shany E, Staretz-Chacham O, Shelef I, Azab AN. · 2026-03-17

    cited 1× open access unreviewed
  9. 9
    A Comprehensive Review of IL-10 and IL-10 Receptor Deficiencies: From Basic Science to Clinical Bedside.

    Xiao J, Ye Z, Huang Y. · 2026-03-26

    cited 1× open access unreviewed
  10. 10
    Making Advanced Therapies Affordable and Accessible: Two Strategic Approaches.

    Ogbogu U, Albrecht L. · 2025-09-10

    open access unreviewed

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