deficiency of adenosine deaminase 2

Also Known As:

ADA2 deficiency; DADA2 deficiency of adenosine deaminase 2; VAIHS vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome; vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome

Networked: 50 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Autoinflammatory Diseases: 43
    - deficiency of adenosine deaminase 2: 50
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Genetic Skin Diseases: 47
    - Hereditary Autoinflammatory Diseases: 43
      - deficiency of adenosine deaminase 2: 50

Related Diseases

1.	Vasculitis (Vasculitides)
2.	Stroke (Strokes)
3.	Polyarteritis Nodosa (Periarteritis Nodosa)
4.	Mevalonate Kinase Deficiency
5.	Familial Mediterranean Fever (Periodic Disease)

Experts

1.	Ombrello, Amanda K: 4 articles (01/2022 - 01/2019)
2.	Aksentijevich, Ivona: 3 articles (01/2022 - 01/2019)
3.	Hoffmann, Patrycja: 3 articles (01/2022 - 01/2021)
4.	Kastner, Daniel L: 3 articles (01/2022 - 01/2019)
5.	Meyts, Isabelle: 3 articles (01/2021 - 05/2016)
6.	Kisla Ekinci, Rabia Miray: 2 articles (08/2022 - 11/2018)
7.	Stone, Deborah: 2 articles (01/2022 - 01/2021)
8.	Eliopoulos, Elias: 2 articles (07/2021 - 01/2020)
9.	Goulielmos, George N: 2 articles (07/2021 - 01/2020)
10.	Matalliotaki, Charoula: 2 articles (07/2021 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to deficiency of adenosine deaminase 2:

1.	Tumor Necrosis Factor InhibitorsIBA 02/01/2021 - "Tumor necrosis factor inhibitors are effective treatment for patients with deficiency of adenosine deaminase 2 (DADA2) with stroke and vasculitis manifestations. "
2.	Adenosine DeaminaseIBA 01/31/2023 - "The deficiency of adenosine deaminase 2 (DADA2) is caused by an autosomal recessive bi-allelic loss-of-function mutation in the adenosine deaminase 2 (ADA2) gene. " 01/01/2023 - "Deficiency of adenosine deaminase 2 (DADA2), an autosomal recessive autoinflammatory disorder caused by biallelic loss-of-function variants in adenosine deaminase 2 (ADA2), has not been systemically investigated in Chinese population yet. " 01/01/2023 - "Deficiency of adenosine deaminase 2 (DADA2) is a rare monogenic disease caused by mutations in the adenosine deaminase 2 gene (ADA2). " 12/17/2022 - "Adenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. " 11/01/2022 - "Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive disease that is caused by loss-of-function mutations in the ADA2 gene. "
3.	EnzymesIBA 08/01/2022 - "Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic inflammatory disease, caused by mutations in ADA2 gene, which encodes an extracellular enzyme acting as a monocyte differentiation factor. " 11/01/2017 - "Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism." 10/01/2022 - "A Rare Genetic Mutation Leading to a Deficiency of Adenosine Deaminase 2 Enzyme in a Long-Standing Case of Cutaneous Polyarteritis Nodosa: A Case Report." 01/01/2016 - "Subjects with ADA2 deficiency (with or without symptoms) also had lower ADA2 enzyme activity compared to healthy pediatric controls (P < 0.0001) and patients with sporadic (nonfamilial) childhood polyarteritis nodosa (PAN) without CECR1 mutation (P = 0.0108). " 01/01/2019 - "Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disorder caused by mutations in CECR1 (cat eye syndrome chromosome region, canditate 1) gene, which encodes the enzyme adenosine deaminase 2 necessary for endothelial cell survival and function. "
4.	InterferonsIBA 01/01/2019 - "Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA2 Deficiency." 01/01/2014 - "Considering the phenotypic overlap of ADA2 deficiency with the type I interferonopathy Aicardi-Goutières syndrome due to mutations in SAMHD1, we looked for the presence of an interferon signature in the peripheral blood of two newly ascertained ADA2-deficient patients. " 01/01/2018 - "Stimulator of interferon gene (STING)-associated vasculopathy of infancy (SAVI) is an interferonopathy that can mimic the presentation of medium-vessel or small-vessel vasculitis, whereas deficiency of adenosine deaminase 2 (DADA2) is another such mimic of medium-vessel vasculitis, associated in a significant number of patients with features of immunodeficiency. " 12/01/2019 - "These are stimulators of interferon genes (STING)-associated vasculopathy of infancy (SAVI), which is a monogenic defect associated with excessive activity in interferon alpha and deficiency of adenosine deaminase 2, which is characterized by a polyarteritis nodosa-like picture. "
5.	Adenosine (Adenocard)FDA LinkGeneric 01/01/2019 - "Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2." 05/01/2016 - "To determine the genotype-phenotype association in patients with adenosine deaminase-2 (ADA2) deficiency due to identical homozygous R169Q mutations inCECR1 METHODS: We present a case series of nine ADA2-deficient patients with an identical homozygous R169Q mutation. " 01/01/2022 - "ELISA based assays to measure adenosine deaminases concentration in serum and saliva for the diagnosis of ADA2 deficiency and cancer." 01/01/2018 - "Adenosine deaminase-2 (ADA2) deficiency (DADA2) is associated with early onset polyarteritis nodosa and vasculopathy. "
6.	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 12/01/2021 - "Examples are familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), tumor necrosis factor receptor 1‑associated periodic syndrome (TRAPS), adenosine deaminase 2 (ADA2) deficiency and mevalonate kinase deficiency (MKD, hyper-IgD syndrome). " 01/01/2020 - "This retrospective study included Colchicine resistant familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), Deficiency of adenosine deaminase 2 (DADA2) patients treated with canakinumab for at least six consecutive months. " 05/01/2023 - "Renal AA amyloidosis is a common and severe complication of AIDs, including familial Mediterranean fever, cryopyrin-associated periodic syndromes, TNF receptor-associated periodic fever syndrome, mevalonate kinase deficiency/hyper-IgD and periodic fever syndrome, and deficiency of adenosine deaminase 2. Amyloidosis may even be the first clinical manifestation in some patients, presenting with asymptomatic proteinuria, nephritic syndrome, progressive renal insufficiency, or end-stage kidney disease. "
7.	RNA (Ribonucleic Acid)IBA 01/01/2021 - "What a difference ADA2 makes: Insights into the pathophysiology of ADA2 deficiency from single-cell RNA sequencing of monocytes." 01/01/2021 - "Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes."
8.	Interferon Type IIBA 11/01/2022 - "A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon." 08/22/2017 - "Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation." 08/22/2017 - "Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. "
9.	canakinumab FDA Link 11/01/2018 - "Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab." 01/01/2020 - "This retrospective study included Colchicine resistant familial Mediterranean fever (FMF), Mevalonate kinase deficiency (MKD), Tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS), Deficiency of adenosine deaminase 2 (DADA2) patients treated with canakinumab for at least six consecutive months. "
10.	HLA-B51 AntigenIBA 09/18/2023 - "The presence of HLA-B51 and the clinical features of this patient raised the question of similarities between ADA2 deficiency, Behçet's disease, and NOD2-associated diseases. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 06/02/2020 - "[Treatment of deficiency of adenosine deaminase 2 caused by CECR1 mutation with myeloablative hematopoietic stem cell transplantation]." 01/01/2018 - "ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation." 11/01/2017 - "Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism."
2.	Therapeutics 12/01/2022 - "Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy." 09/01/2017 - "Deficiency of adenosine deaminase 2 can present with a polyarteritis nodosa (PAN)-like picture and should be included in the differential of all pediatric cases of PAN with a family history or in cases with early stroke, or in cases resistant to conventional therapy. "
3.	Secondary Prevention 04/01/2020 - "Several recent advances have been made in diagnosis and management of stroke in young adults, including molecular characterization of monogenic vasculitis due to deficiency of adenosine deaminase 2 and transcatheter closure of patent foramen ovale for secondary prevention. "
4.	Cell Transplantation 01/01/2022 - "Allogeneic Hematopoietic Cell Transplantation for Patients With Deficiency of Adenosine Deaminase 2 (DADA2): Approaches, Obstacles and Special Considerations."