Research & Literature

Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Schepp J, Proietti M, Frede N, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2017; (69(8)):1689-1700 doi:10.1002/art.40147.

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Hashem H, Kumar AR, Müller I, et al.

Blood 2017; (130(24)):2682-2688 doi:10.1182/blood-2017-07-798660.

[Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].

Fayand A, Sarrabay G, Belot A, et al.

La Revue de medecine interne 2018; (39(4)):297-306 doi:10.1016/j.revmed.2017.11.006.

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Rama M, Duflos C, Melki I, et al.

European journal of human genetics : EJHG 2018; (26(7)):960-971 doi:10.1038/s41431-018-0130-6.

Deficiency of adenosine deaminase 2; special focus on central nervous system imaging.

Bulut E, Erden A, Karadag O, et al.

Journal of neuroradiology = Journal de neuroradiologie 2019; (46(3)):193-198 doi:10.1016/j.neurad.2018.05.002.

Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

Lee PY

Frontiers in pediatrics 2018; (6()):282 doi:10.3389/fped.2018.00282.

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.

Moens L, Hershfield M, Arts K, et al.

Immunological reviews 2019; (287(1)):62-72 doi:10.1111/imr.12722.

Identification of Novel Adenosine Deaminase 2 Gene Variants and Varied Clinical Phenotype in Pediatric Vasculitis.

Gibson KM, Morishita KA, Dancey P, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2019; (71(10)):1747-1755 doi:10.1002/art.40913.

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

Carmona-Rivera C, Khaznadar SS, Shwin KW, et al.

Blood 2019; (134(4)):395-406 doi:10.1182/blood.2018892752.

Testicular ischemia in deficiency of adenosine deaminase 2 (DADA2).

Clarke K, Campbell C, Omoyinmi E, et al.

Pediatric rheumatology online journal 2019; (17(1)):39 doi:10.1186/s12969-019-0334-5.

A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia.

Ekinci RMK, Balcı S, Bisgin A, et al.

Pediatric hematology and oncology 2019; (36(6)):376-381 doi:10.1080/08880018.2019.1621973.

A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2.

Sahin S, Adrovic A, Kasapcopur O

Current opinion in rheumatology 2020; (32(1)):3-14 doi:10.1097/BOR.0000000000000669.

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

van Well GTJ, Kant B, van Nistelrooij A, et al.

Clinical and experimental rheumatology 2019; (37 Suppl 121(6)):142-146.

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Lee PY, Kellner ES, Huang Y, et al.

The Journal of allergy and clinical immunology 2020; (145(6)):1664-1672.e10 doi:10.1016/j.jaci.2019.12.908.

Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.

Schnappauf O, Zhou Q, Moura NS, et al.

Journal of clinical immunology 2020; (40(6)):917-926 doi:10.1007/s10875-020-00817-3.

The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.

Kendall JL, Springer JM

Current rheumatology reports 2020; (22(10)):64 doi:10.1007/s11926-020-00944-1.

Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India.

Sharma A, Naidu G, Sharma V, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2021; (73(2)):276-285 doi:10.1002/art.41500.

Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).

Cooray S, Omyinmi E, Hong Y, et al.

Rheumatology (Oxford, England) 2021; (60(9)):4373-4378 doi:10.1093/rheumatology/keaa837.

Adult-onset deficiency of adenosine deaminase 2-a case report and literature review.

Zhang B, Sun Y, Xu N, et al.

Clinical rheumatology 2021; (40(10)):4325-4339 doi:10.1007/s10067-021-05587-w.

Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.

Pinto B, Deo P, Sharma S, et al.

Clinical rheumatology 2021; (40(10)):3883-3896 doi:10.1007/s10067-021-05711-w.

Systematic review of childhood-onset polyarteritis nodosa and DADA2.

Kasap Cuceoglu M, Sener S, Batu ED, et al.

Seminars in arthritis and rheumatism 2021; (51(3)):559-564 doi:10.1016/j.semarthrit.2021.04.009.

Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.

Watanabe N, Gao S, Wu Z, et al.

Journal of leukocyte biology 2021; (110(3)):409-424 doi:10.1002/JLB.3HI0220-119RR.

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

Jee H, Huang Z, Baxter S, et al.

The Journal of allergy and clinical immunology 2022; (149(1)):379-387 doi:10.1016/j.jaci.2021.04.034.

Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2.

Carneiro DR, Rebelo O, Matos A, et al.

Neuromuscular disorders : NMD 2021; (31(9)):891-895 doi:10.1016/j.nmd.2021.05.001.

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients.

Hashem H, Bucciol G, Ozen S, et al.

Journal of clinical immunology 2021; (41(7)):1633-1647 doi:10.1007/s10875-021-01098-0.

Treatment and Outcome in Deficiency of Adenosine Deaminase 2: A Literature Review.

Zhang B, Xu N, Chen J, et al.

Journal of investigational allergology & clinical immunology 2021; (32(1)):13-22 doi:10.18176/jiaci.0748.

DADA2 diagnosed in adulthood versus childhood: A comparative study on 306 patients including a systematic literature review and 12 French cases.

Fayand A, Chasset F, Boutboul D, et al.

Seminars in arthritis and rheumatism 2021; (51(6)):1170-1179 doi:10.1016/j.semarthrit.2021.09.001.

TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2).

Deuitch NT, Yang D, Lee PY, et al.

The Journal of allergy and clinical immunology 2022; (149(5)):1812-1816.e6 doi:10.1016/j.jaci.2021.10.030.

A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges.

Pardinhas C, Santo G, Escada L, et al.

Case reports in nephrology and dialysis 2021; (11(3)):340-347 doi:10.1159/000517141.

The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.

Barron KS, Aksentijevich I, Deuitch NT, et al.

Frontiers in immunology 2021; (12()):811473 doi:10.3389/fimmu.2021.811473.

Early onset is an indication of the severity of DADA2 disease.

Zhao X, Zhang J, Li C, et al.

Rheumatology (Oxford, England) 2023; (62(2)):969-976 doi:10.1093/rheumatology/keac233.

Clinical presentation of children with Deficiency of Adenosine deaminase 2: A case series.

Kisla Ekinci RM, Anlas O, Ozalp O

European journal of medical genetics 2022; (65(8)):104555 doi:10.1016/j.ejmg.2022.104555.

Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations.

Hashem H, Dimitrova D, Meyts I

Frontiers in immunology 2022; (13()):932385 doi:10.3389/fimmu.2022.932385.

Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.

Frey MK, Ahsan MD, Bergeron H, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022; (40(35)):4129-4143 doi:10.1200/JCO.22.00303.

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency.

Drago E, Garbarino F, Signa S, et al.

Frontiers in immunology 2022; (13()):937108 doi:10.3389/fimmu.2022.937108.

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.

Barzaghi F, Cicalese MP, Zoccolillo M, et al.

Frontiers in immunology 2022; (13()):910021 doi:10.3389/fimmu.2022.910021.

Pathogenic variant c.1052T>A (p.Leu351Gln) in adenosine deaminase 2 impairs secretion and elevates type I IFN responsive gene expression.

Bowers SM, Sundqvist M, Dancey P, et al.

Frontiers in immunology 2022; (13()):995191 doi:10.3389/fimmu.2022.995191.

A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing.

Matsushita Y, Nagata H, Ogawa M, et al.

Journal of pediatric genetics 2022; (11(4)):313-316 doi:10.1055/s-0040-1719054.

Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.

Kontorovich AR

JACC. Heart failure 2023; (11(2)):133-142 doi:10.1016/j.jchf.2022.11.025.

ADA2 deficiency (DADA2) misdiagnosed as systemic onset juvenile idiopathic arthritis in a child carrying a novel compound heterozygous ADA2 mutation: a case report.

Yin J, Fan X, Ma J, et al.

Translational pediatrics 2023; (12(1)):97-103 doi:10.21037/tp-22-261.

TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.

Soldatos A, Toro C, Hoffmann P, et al.

Neurology(R) neuroimmunology & neuroinflammation 2023; (10(3)) doi:10.1212/NXI.0000000000200073.

Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.

Chen L, Mamutova A, Kozlova A, et al.

The Journal of allergy and clinical immunology 2023; (152(3)):771-782 doi:10.1016/j.jaci.2023.04.014.

A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review.

Maccora I, Maniscalco V, Campani S, et al.

Orphanet journal of rare diseases 2023; (18(1)):117 doi:10.1186/s13023-023-02721-6.

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

Lee PY, Davidson BA, Abraham RS, et al.

JAMA network open 2023; (6(5)):e2315894 doi:10.1001/jamanetworkopen.2023.15894.

A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency.

Dzhus M, Ehlers L, Wouters M, et al.

Journal of clinical immunology 2023; (43(8)):1916-1926 doi:10.1007/s10875-023-01555-y.

Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study.

Verschoof MA, van Meenen LCC, Andriessen MVE, et al.

European journal of neurology 2024; (31(1)):e16043 doi:10.1111/ene.16043.

Deficiency of adenosine deaminase 2 as an unrecognized cause of early-onset stroke and cranial nerve palsy.

Celikel E, Aydin F, Tekin ZE, et al.

Northern clinics of Istanbul 2023; (10(4)):411-417 doi:10.14744/nci.2022.45380.

Vasculitis associated with adenosine deaminase 2 deficiency: at the crossroads between Behçet's disease and autoinflammation. A viewpoint.

Colangelo A, Tromby F, Cafaro G, et al.

Reumatismo 2023; (75(3)) doi:10.4081/reumatismo.2023.1578.

Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment.

Grim A, Veiga KR, Saad N

Rheumatic diseases clinics of North America 2023; (49(4)):773-787 doi:10.1016/j.rdc.2023.06.004.

A Successful Infliximab Treatment of a Pediatric Case of Severe Polyarteritis Nodosa With a Cerebral Infarction and a Decreased Adenosine Deaminase 2 Activity.

Izumo H, Ishikawa N, Kobayashi Y, et al.

Cureus 2023; (15(10)):e47952 doi:10.7759/cureus.47952.

Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency.

Ates MB, Karup S, Ugurlu S

Reumatismo 2023; (75(4)) doi:10.4081/reumatismo.2023.1543.

ADA2 regulates inflammation and hematopoietic stem cell emergence via the A2bR pathway in zebrafish.

Brix A, Belleri L, Pezzotta A, et al.

Communications biology 2024; (7(1)):615 doi:10.1038/s42003-024-06286-3.

Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment.

Karimzade P, Eghbali A, Keramatipour M, et al.

Case reports in immunology 2024; (2024()):4380689 doi:10.1155/2024/4380689.

Clinical spectrum of and outcomes for Indian children with deficiency of adenosine deaminase 2 (DADA2): a multicentric study.

Kumar S, Chugh A, Kumar SC, et al.

Rheumatology (Oxford, England) 2025; (64(4)):2179-2184 doi:10.1093/rheumatology/keae489.

Early bone marrow alterations in patients with adenosine deaminase 2 deficiency across disease phenotypes and severities.

Bulté D, Barzaghi F, Mesa-Nuñez C, et al.

The Journal of allergy and clinical immunology 2025; (155(2)):616-627.e8 doi:10.1016/j.jaci.2024.09.007.

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Wouters M, Ehlers L, Van Eynde W, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.12.09.24317629.

Deficiency of adenosine deaminase 2 skews adaptive immune repertoires toward specific sets of T- and B-cell receptors.

Schultheiß C, Schmidt-Barbo P, Paschold L, et al.

The Journal of allergy and clinical immunology 2025; (155(5)):1664-1674 doi:10.1016/j.jaci.2025.01.032.

Infantile Pure Red Cell Aplasia Secondary to Deficiency of Adenosine Deaminase2 (DADA2) Syndrome-Time to Think Beyond Diamond Blackfan Anemia.

Nayak AR, Dass J, Parikh H, et al.

Pediatric blood & cancer 2025; (72(6)):e31656 doi:10.1002/pbc.31656.

Deficiency of Adenosine Deaminase 2 Masquerading as Behçet's Disease: Phenotypic Mimicry with HLA-B*51 Positivity.

Almojali A, Alrasheed A, Alharbi B, et al.

Journal of clinical immunology 2025; (45(1)):83.

Pediatric-Onset Polyarteritis Nodosa and Deficiency of Adenosine Deaminase 2: Clinical Overlap and Divergence.

Atamyildiz Uçar S, Tunce E, Türkmen Ş, et al.

Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases 2025; (31(8)):299-305 doi:10.1097/RHU.0000000000002270.

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Wouters M, Ehlers L, Van Eynde W, et al.

The Journal of experimental medicine 2025; (222(11)) doi:10.1084/jem.20250499.

Early-onset neutropenia and mixed phenotype in ADA2 deficiency: diagnostic and therapeutic challenges.

Kaplan Sarıkavak S, Türkyılmaz Uçar Ö, Cil B, et al.

Frontiers in immunology 2025; (16()):1639318 doi:10.3389/fimmu.2025.1639318.

Diagnostic Implications and Correlates of Plasma Adenosine Deaminase 2 Activity and ADA2 Variants.

Yue J, LeSon CE, Rimland CA, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2026; (78(3)):734-742 doi:10.1002/art.43412.

Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.

Zhou Y, Shen M, Jiang N, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (47(1)):18.

A Review of Adenosine Deaminase 2 (ADA2) as a Biomarker of Monocyte/Macrophage Activation.

Lim J, Doss J, Shen J, et al.

Current allergy and asthma reports 2026; (26(1)):2 doi:10.1007/s11882-025-01249-y.

Integrating genetic counseling in endocrine practice: Prevention, reproductive care, and prenatal diagnosis.

Girerd B, Peduto C, Rothenbuhler A, et al.

Annales d'endocrinologie 2026; (87(3)):102518 doi:10.1016/j.ando.2026.102518.

Hepatic Manifestations and Response to Treatment in Deficiency of Adenosine Deaminase 2.

Shaik MR, Alao H, Shaik NA, et al.

Liver international : official journal of the International Association for the Study of the Liver 2026; (46(6)):e70660 doi:10.1111/liv.70660.

DADA2 as a Model of Monogenic Immune Vasculopathy: From Immunopathogenesis to Precision Therapeutics.

Peng H, Li C, Mo C, et al.

Biomolecules 2026; (16(7)) doi:10.3390/biom16071057.

Adenosine deaminase type 2 deficiency: From rare to common.

Wouters M, Kienapfel V, Ehlers L, et al.

Journal of human immunity 2026; (2(5)):e20260015 doi:10.70962/jhi.20260015.