ArticleFrontiers in immunology2018
ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation.
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In one paragraph
Article in Frontiers in immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 3 pooled it
2.7field-weighted citation impact, top 9% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 48 citations in OpenAlex.
- A Case Report of IPEX Syndrome with Neonatal Diabetes Mellitus and Congenital Hypothyroidism as the Initial Presentation, and a Systematic Review of neonatal IPEX.Journal of clinical immunology · 2023Pooled it
- A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Lymphoproliferation in Inborn Errors of Immunity: Mechanisms, Manifestations and Clinical Management, with a Focus on ALPID.ImmunoTargets and therapy · 2026Review
- Gene therapy supports long-term reconstitution of patient hematopoietic stem cells in deficiency of adenosine deaminase 2.Molecular therapy. Methods & clinical development · 2025Article
- Preclinical evaluation of lentiviral gene therapy for adenosine deaminase 2 deficiency (DADA2): engraftment efficiency and biodistribution in humanised NBSGW mice.Gene therapy · 2025Article
- Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.The Journal of allergy and clinical immunology · 2025Article
- ADA2 regulates inflammation and hematopoietic stem cell emergence via the ACommunications biology · 2024Article
- Plasma adenosine deaminase-1 and -2 activities are lower at birth in Papua New Guinea than in The Gambia but converge over the first weeks of life.Frontiers in immunology · 2024Article
- Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.Case reports in immunology · 2024Article
- A Cohort Study on Deficiency of ADA2 from China.Journal of clinical immunology · 2023Article
- Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2).Seminars in immunopathology · 2022Review
- Lentiviral MediatedFrontiers in immunology · 2022Article
- Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.Frontiers in immunology · 2022Review
- Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.Frontiers in immunology · 2022Review
- Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.Frontiers in immunology · 2022Review
- Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.Journal of clinical immunology · 2021Article
- Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.Clinical rheumatology · 2021Review
- Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.Clinical rheumatology · 2021Review
- Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.Journal of clinical immunology · 2021Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 3 countries.
Federica BarzaghiPediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Federica MinnitiPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Margherita MauroPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Massimiliano De BortoliPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Rita BalterPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Elisa BonettiPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Ada ZaccaronPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Virginia VitalePaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Maryam OmraniSan Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Matteo ZoccolilloSan Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Immacolata BrigidaSan Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Maria Pia CicalesePediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Massimo DeganoBiocrystallography Unit, Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Michael S HershfieldDepartment of Medicine and Biochemistry, Duke University School of Medicine, Durham, NC, United States.
Alessandro AiutiPediatric Immunohematology and Bone Marrow Transplantation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Anastasiia V BondarenkoDepartment of Pediatric Infectious Diseases and Immunology, Medical Academy of Postgraduate Education, Kiev, Ukraine.
Matteo ChinelloPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Simone CesaroPaediatric Hematology-Oncology, Ospedale della Donna e del Bambino, Verona, Italy.
Istituto di Ricovero e Cura a Carattere Scientifico San RaffaeleIstituti di Ricovero e Cura a Carattere Scientifico · ITDuke University · USShupyk National Healthcare University of Ukraine · UAThe San Raffaele Telethon Institute for Gene Therapy · ITVita-Salute San Raffaele University · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (
Indexed as
Hematopoietic Stem Cell TransplantationTransplantation ConditioningUnrelated DonorsAdenosine DeaminaseApoptosisAutoimmune Lymphoproliferative SyndromeChild, Preschoolfas ReceptorFemaleGranulocyte Colony-Stimulating FactorHumansIntercellular Signaling Peptides and ProteinsNeutropeniaTransplantation, HomologousADA2 protein, humanAdenosine DeaminaseFAS protein, humanfas ReceptorGranulocyte Colony-Stimulating FactorIntercellular Signaling Peptides and ProteinsADA2ADA2 deficiencyALPSautoimmunityCECR1HSCTimmunodeficiencyneutropenia
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.