Human adenosine deaminase type 2 deficiency enhances NK cell activation but impairs maturation and function.

P06 Adenosine deaminase deficient-severe combined immunodeficiency and multicentric dermatofibrosarcoma protuberans: an emerging association.

Diverse Phenotypic Expressions of ADA2 Deficiency: Two Case Studies.

Adult-onset adenosine deaminase-2 deficiency presenting with recurrent juvenile cerebral infarction:A case report.

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

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

Long-Term Safety and Efficacy of Gene Therapy for Adenosine Deaminase Deficiency.

Early-onset vasculitis: a toddler with ADA2 deficiency.

A rapid antigen test to detect adenosine deaminase 2 (ADA2) in biological fluids and its application in clinical diagnostics.

Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.

Paracentral acute middle maculopathy as a major clinical manifestation of adenosine deaminase-2 deficiency.

Adenosine and Adenosine Deaminase Contrary Manifestations in Immunity.

Preclinical evaluation of lentiviral gene therapy for adenosine deaminase 2 deficiency (DADA2): engraftment efficiency and biodistribution in humanised NBSGW mice.

Inhibition of lysosomal degradation increases expression of mutant ADA2 in DADA2 monocytes.

Quantifying the mutational landscape of retroviral and lentiviral vectors in gene therapy patients.

[ADA2, an Adenosine Deaminase Isozyme Acting as a Regulator of Autoinflammation].

Multi-Year Registry Study of Elapegademase Treatment in Patients With Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy.

Mimics and challenging presentations of DADA2.

Getting to know adenosine deaminase 2 deficiency inside and out.

Prolonged diagnostic journey in delayed-onset adenosine deaminase deficiency.

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

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency.

Evolving spectrum of adenosine deaminase (ADA) deficiency: Assessing genotype pathogenicity according to expressed ADA activity of 46 variants.

Deficiency of Adenosine Deaminase 2.

Omenn Syndrome can Occur during Enzyme Therapy for Adenosine Deaminase Deficiency.

Human ADA2 Deficiency: Ten Years Later.

A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency.

A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.

Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency.

Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.

Severe combined immunodeficiency diagnosis and genetic defects.

What a Clinician Needs to Know About Genome Editing: Status and Opportunities for Inborn Errors of Immunity.

Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI.

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

Successful management of delayed-onset adenosine deaminase deficiency with novel mutation.

Gene therapy for adenosine deaminase severe combined immune deficiency-An unexpected journey of four decades.

Cutaneous vasculitis in autoinflammatory diseases.

Novel ADA2 Variants in a Romanian Case Series of DADA2.

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

Optimized expression and purification of a human adenosine deaminase in E. coli and characterization of its Asp8Asn variant.

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.

Metagenomic profiling pipelines improve taxonomic classification for 16S amplicon sequencing data.

Recurrent flare-associated urticaria in adenosine deaminase type 2 deficiency.

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

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

Safety and efficacy of elapegademase in patients with adenosine deaminase deficiency: A multicenter, open-label, single-arm, phase 3, and postmarketing clinical study.

Adenosine deaminase 2 deficiency in a Chinese patient: Report of one novel mutation and literature review.

Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review.

Brainstem Infarction in Immunodeficiency Identified as Adenosine Deaminase 2 Deficiency: Case Report.

Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.

Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS.

Delayed-onset adenosine deaminase deficiency with a novel synonymous mutation and a case series from China.

Hepatocellular Carcinoma in ADA-SCID Patient After Hematopoietic Stem Cell Transplantation.

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

Composition, structure, and functional shifts of prokaryotic communities in response to co-composting of various nitrogenous green feedstocks.

PEGylated Recombinant Adenosine Deaminase Maintains Detoxification and Lymphocyte Counts in Patients with ADA-SCID.

Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience.

Updated Management Guidelines for Adenosine Deaminase Deficiency.

Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.

National experience with adenosine deaminase deficiency related SCID in Polish children.

A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report.

ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis.

Balancing early detection of adenosine deaminase deficiency with overdiagnosis risk.

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

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

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

Break down the barriers of auto-inflammation: How to deal with a monogenic auto-inflammatory disease and immuno-haematological features in 2022?

ELISA based assays to measure adenosine deaminases concentration in serum and saliva for the diagnosis of ADA2 deficiency and cancer.

Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency.

Evaluation of clonal hematopoiesis in pediatric ADA-SCID gene therapy participants.

Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature.

Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.

A novel variant in severe disease of DADA2: involving vasculitic and haematologic features.

A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon.

Skeletal dysplasia in adenosine deaminase deficiency.

Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC.

Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Lentiviral Mediated ADA2 Gene Transfer Corrects the Defects Associated With Deficiency of Adenosine Deaminase Type 2.

[Adenosine deaminase 2 deficiency: a disease with multiple presentations].

Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency-Improved Outcomes in the Modern Era.

Reversion Mosaicism in Primary Immunodeficiency Diseases.

Metabolite and thymocyte development defects in ADA-SCID mice receiving enzyme replacement therapy.

DADA2 presenting as nonimmune hemolytic anemia with recurrent macrophage activation syndrome.

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

The Use of Induced Pluripotent Stem Cells to Study the Effects of Adenosine Deaminase Deficiency on Human Neutrophil Development.

Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency.

A Promising Option for ADA-SCID Patients.

Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience.

A Novel LC-MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.

Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)-Two Diseases That Exacerbate Each Other: Case Report.

A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.

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

Deficiency of Adenosine Deaminase 2-a Monogenic Cause of Wunderlich Syndrome.

Promising Results with Ex Vivo Lentiviral HSPC Gene Therapy in ADA-SCID.

Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy.

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

Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency.

Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency.

Hematopoietic stem cell transplant for the treatment of adenosine deaminase-deficient severe combined immune deficiency.

Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency.

Inborn errors of immunity and metabolic disorders: current understanding, diagnosis, and treatment approaches.

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.

Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation.

ADA2 deficiency (DADA2) associated with Evans syndrome and a severe ADA2 genotype.

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

Successful engraftment of haploidentical stem cell transplant with post-transplantation cyclophosphamide in a patient with adenosine deaminase deficiency.

Outcomes of 3 patients with adenosine deaminase deficiency on long-term enzyme replacement therapy.

Gene therapy for primary immunodeficiencies.

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

Gene therapy: An updated overview on the promising success stories.

Emapalumab treatment in an ADA-SCID patient with refractory hemophagocytic lymphohistiocytosis-related graft failure and disseminated bacillus Calmette-Guérin infection.

Successful treatment with cyclosporine and anti-tumour necrosis factor agent for deficiency of adenosine deaminase-2.

Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.

Busulfan Pharmacokinetics in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Gene Therapy.

Late-Onset EBV Susceptibility and Refractory Pure Red Cell Aplasia Revealing DADA2.

[Treatment of deficiency of adenosine deaminase 2 caused by CECR1 mutation with myeloablative hematopoietic stem cell transplantation].

Urogenital Abnormalities in Adenosine Deaminase Deficiency.

Choroidal vascularity index as a biomarker of systemic inflammation in childhood Polyarteritis Nodosa and adenosine deaminase-2 deficiency.

A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency.

Cutaneous nodules and livedo reticularis in a 3-year-old boy.

Comparison of elapegademase and pegademase in ADA-deficient patients and mice.

Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2.

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID.

In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency.

Gene therapy for severe combined immunodeficiencies and beyond.

Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.

Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.

Treatment of Two Boys Suffering From Deficiency of Adenosine Deaminase Type 2 (DADA2) With TNF-Inhibitor Etanercept.

Management of ADA-Deficient SCID Patient on Adagen During Pregnancy.

Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

The same mutation in a family with adenosine deaminase 2 deficiency.

Looking into a Crystal Ball: An Interview with Ron Crystal.

Deficiency of adenosine deaminase 2: a case series revealing clinical manifestations, genotypes and treatment outcomes from Turkey.

In vivo dynamics of human hematopoietic stem cells: novel concepts and future directions.

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

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

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

Teaching NeuroImages: Lacunar stroke and polyarteritis nodosa: Consider ADA2 deficiency (DADA2).

ADA2 deficiency due to a novel structural variation in 22q11.1.

Early Enzyme Replacement Therapy Improves Hearing and Immune Defects in Adenosine Deaminase Deficient-Mice.

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency.

A Chinese DADA2 patient: report of two novel mutations and successful HSCT.

Warts and DADA2: a Mere Coincidence?

Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.

A misleading case of deficiency of adenosine deaminase 2 (DADA2): the magnifying glass of the scientific knowledge drives the tailored medicine in real life.

Successful Treatment With Ledipasvir/Sofosbuvir in an Infant With Severe Combined Immunodeficiency Caused by Adenosine Deaminase Deficiency With HCV Allowed Gene Therapy with Strimvelis.

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

Neutropenia among patients with adenosine deaminase deficiency.

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Adenosine deaminase deficiency: a review.

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

Gene therapy in rare diseases: the benefits and challenges of developing a patient-centric registry for Strimvelis in ADA-SCID.

"Immune" Thrombocytopenia as Key Feature of a Novel ADA2 Deficiency Variant: Implication on Differential Diagnostics of ITP in Children.

A Novel Approach to the Treatment of Plasma Protein Deficiency: Ex Vivo-Manipulated Adipocytes for Sustained Secretion of Therapeutic Proteins.

First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.

Gene Therapy for Adenosine Deaminase Deficiency: A Comprehensive Evaluation of Short- and Medium-Term Safety.

Maternal T-cell engraftment impedes with diagnosis of a SCID-ADA patient.

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

Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.

Long-Term Outcome of Adenosine Deaminase-Deficient Patients-a Single-Center Experience.

Cupping at the ends of ribs is not always rickets.

Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Genetic Engineering and Manufacturing of Hematopoietic Stem Cells.

Perspectives on Manufacturing of High-Quality Cell Therapies.

Gene therapy for ADA-SCID, the first marketing approval of an ex vivo gene therapy in Europe: paving the road for the next generation of advanced therapy medicinal products.

Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients.

Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency.

Good Laboratory Practice Preclinical Safety Studies for GSK2696273 (MLV Vector-Based Ex Vivo Gene Therapy for Adenosine Deaminase Deficiency Severe Combined Immunodeficiency) in NSG Mice.

How We Manage Adenosine Deaminase-Deficient Severe Combined Immune Deficiency (ADA SCID).

ADA-SCID Gene Therapy Endorsed By European Medicines Agency For Marketing Authorization.

Gene therapy's out-of-body experience.

Investor Outlook: Rising from the Ashes; GSK's European Approval of Strimvelis for ADA-SCID.

Medallion-Like Dermal Dendrocytic Hamartoma, Dermatofibrosarcoma Protuberans, and Adenosine Deaminase-Deficient Severe Combined Immunodeficiency.

EMA greenlights second gene therapy.

Adenosine deaminase type 2 deficiency masquerading as GATA2 deficiency: Successful hematopoietic stem cell transplantation.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Adenosine Deaminase Deficiency with a Novel Gene Mutation.

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

A 24-Year Enzyme Replacement Therapy in an Adenosine-deaminase-Deficient Patient.

A Journey in the Development of Gene Therapy for Inherited Disorders of the Bone Marrow.

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

Medicine: Expanding possibilities.

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

Effects of enzyme replacement therapy on immune function in ADA deficiency patient.

Toll-like receptor signaling in primary immune deficiencies.

Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.

Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.

[Adenosine deaminase 1 deficiency, an inborn error of metabolism underlying a severe form of combined immunodeficiency].

Elevated adenosine signaling via adenosine A2B receptor induces normal and sickle erythrocyte sphingosine kinase 1 activity.