ADA, adenosine deaminase, 100

N. diseases: 379; N. variants: 61
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Inherited defects in adenosine deaminase (ADA) cause a subtype of severe combined immunodeficiency (SCID) known as severe combined immune deficiency caused by adenosine deaminase defects (ADA-SCID). 30194989 2019
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE Although ADA enzymatic levels were suggestive of ADA-SCID, the child did not present the classical signs of ADA deficiency; therefore, the initial diagnosis was of a conventional SCID. 29355610 2018
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Adenosine deaminase (ADA) deficiency leads to an accumulation of toxic purine degradation by-products, most potently affecting lymphocytes, leading to adenosine deaminase-deficient severe combined immunodeficiency. 29690908 2018
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE Adenosine deaminase-deficient severe combined immunodeficiency disease (ADA-SCID) is a primary immune deficiency characterized by mutations in the ADA gene resulting in accumulation of toxic compounds affecting multiple districts. 29456531 2018
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE We describe a case of an infant diagnosed with severe combined immune deficiency (Adenosine Deaminase (ADA), SCID) with severe retinopathy and associated low vision in both eyes at first examination. 28812413 2018
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE Eight patients with ADA-SCID were found to have higher levels of ADA metabolite (dAXP%) (62.1% (34.6-71.9)) than 3 patients with delayed-/late-onset ADA deficiency (6.9% (2.1-8.9). 29744787 2018
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE GSK2696273 (autologous CD34+ cells transduced with retroviral vector that encodes for the human adenosine deaminase [ADA] enzyme) is a gamma-retroviral ex vivo gene therapy of bone marrow-derived CD34+ cells for the treatment of adenosine deaminase deficiency severe combined immunodeficiency (ADA-SCID). 28319446 2017
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC). 28842866 2017
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Strimvelis, a patient-specific gene-modified stem cell medicine for ADA-SCID (adenosine deaminase deficiency leading to severe combined immunodeficiency; a fatal immunometabolic disorder similar to the bubble-boy disease), was developed by scientists at the San Raffaele Telethon Institute for Gene Therapy (TIGET) in Milan, Italy, which then later partnered with GlaxoSmithKline (GSK, Brentford, UK). 27763769 2016
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE At present, treatments for the clinically significant defects of the purine pathway are restricted: purine 5'-nucleotidase deficiency with uridine; familial juvenile hyperuricaemic nephropathy (FJHN), adenine phosphoribosyl transferase (APRT) deficiency, hypoxanthine phosphoribosyl transferase (HPRT) deficiency and phosphoribosyl-pyrophosphate synthetase superactivity (PRPS) with allopurinol; adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies have been treated by bone marrow transplantation (BMT), and ADA deficiency with enzyme replacement with polyethylene glycol (PEG)-ADA, or erythrocyte-encapsulated ADA; myeloadenylate deaminase (MADA) and adenylosuccinate lyase (ADSL) deficiencies have had trials of oral ribose; PRPS, HPRT and adenosine kinase (ADK) deficiencies with S-adenosylmethionine; and molybdenum cofactor deficiency of complementation group A (MOCODA) with cyclic pyranopterin monophosphate (cPMP). 24972650 2014
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE The alterations in the CD39/CD73 adenosinergic machinery and loss of function in ADA-deficient Tregs provide new insights into a predisposition to autoimmunity and the underlying mechanisms causing defective peripheral tolerance in ADA-SCID. 22184407 2012
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE We report a child with severe combined immunodeficiency (T-B- SCID) due to ADA deficiency diagnosed at the age of 1 month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the ADA gene. 21671975 2011
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE In this study, recombinant adeno-associated virus (rAAV) vectors based on serotypes 1 and 9 were used to deliver a secretory version of the human ADA (hADA) gene to various tissues to promote immune reconstitution following enzyme expression in a mouse model of ADA deficiency. 21142972 2011
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE We infused autologous CD34+ bone marrow cells transduced with a retroviral vector containing the ADA gene into 10 children with SCID due to ADA deficiency who lacked an HLA-identical sibling donor, after nonmyeloablative conditioning with busulfan. 19179314 2009
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Towards a rAAV-based gene therapy for ADA-SCID: from ADA deficiency to current and future treatment strategies. 18597656 2008
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Overall, our findings provide a better understanding of the pathogenesis of the immune defects associated with an altered purine metabolism and confirm that ADA gene transfer is an efficacious treatment for ADA-SCID. 18218852 2008
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE Approximately 1 out of 5 - 10000 Somali children will be born with ADA deficiency due to an ADA c7C/T mutation, although within certain clans the frequency may be significantly higher. 17181544 2007
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE In vivo transduction by intravenous injection of a lentiviral vector expressing human ADA into neonatal ADA gene knockout mice: a novel form of enzyme replacement therapy for ADA deficiency. 16651028 2006
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE An ADA-SCID child who showed a poor response to PEG-ADA enzyme replacement was enrolled into the clinical study. 16905365 2006
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 AlteredExpression disease BEFREE Evaluation of ADA gene expression and transduction efficiency in ADA/SCID patients undergoing gene therapy. 15571238 2004
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE In the first patients with severe combined immunodeficiency due to adenosine deaminase deficiency treated with peripheral blood lymphocytes, transduced T cells have been shown to persist for over 10 years, expressing transgenic adenosine deaminase, but the therapeutic effect of gene therapy remained difficult to assess because of the concomitant treatment with bovine adenosine deaminase conjugated to polyethylene-glycol (PEG-ADA). 14612670 2003
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE The first human gene therapy experiment begun in September 1990 used a retroviral vector containing the human adenosine deaminase (ADA) cDNA to transduce mature peripheral blood lymphocytes from patients with ADA deficiency, an inherited disorder of immunity. 12456496 2003
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 GeneticVariation disease BEFREE Inherited ADA deficiency causes severe combined immunodeficiency disease (ADA-SCID), in which both B-cell and T-cell development is impaired. 11223861 2001
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE Absence of ADA-CD26 binding has been implicated in causing severe combined immunodeficiency due to ADA deficiency. 11067872 2000
CUI: C0392607
Disease: Severe combined immunodeficiency due to adenosine deaminase deficiency
Severe combined immunodeficiency due to adenosine deaminase deficiency 		0.800 Biomarker disease BEFREE The GI phenotype associated with ADA-deficient humans prompted us to examine the effect of ADA-deficiency on mouse small intestine tissue. 10720488 2000