adenosine deaminase deficiency


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adenosine deaminase deficiency

A uniformly fatal autosomal dominant [MIM 102700] disease, which consitutes 40% of patients with sever combined immunodeficiency disease.
 
Clinical findings
Cellular immune dysfunction, oral candidiasis, intractable diarrhoea, failure to thrive, severe diaper rash, pseudoachondrodysplasia, death by age 2.
 
Lab
Lymphopaenia < 0.5 x 109/L (US, < 500 mm3), especially T cells; eosinophilia; increased adenosine and deoxyadenosine in serum and urine.
 
Management
Gene therapy; rarely, bone marrow transplantation.

adenosine deaminase deficiency

ADA deficiency A uniformly fatal AD disease, which consitutes 40% of Pts with SCID Clinical Cellular immune dysfunction, oral candidiasis, intractable diarrhea, FTT, severe diaper rash, pseudoachondrodysplasia, death by age 2 Lab ↓ Lymphocytes < 0.5 x 109/L–US, < 500 mm3, especially T cells; eosinophilia; ↑ adenosine and deoxyadenosine in serum and urine Treatment Gene therapy; rarely BMT. See Cartilage-hair syndrome.
References in periodicals archive ?
To appreciate how deliberate that progress has been, consider that the first successful experimental human gene therapy subject, suffering from an immune deficiency known as adenosine deaminase deficiency (ADA), was treated in 1990; but in the United States it wasn't until 2017 that the first gene therapy (Kymriah) achieved FDA approval.
Adenosine deaminase deficiency increases thymic apoptosis and causes defective T cell receptor signaling.
In June 2016, GlaxoSmithKline, Fondazione Telethon and Ospedale San Raffaele gained European Commission approval for Strimvelis (autologous CD34+ cells transduced to express ADA), the first ex-vivo stem cell gene therapy to treat patients with severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID).
Among their topics are immunological tests from the microscope to whole genome analysis, primary immunodeficiency in the developing countries, severe combined immunodeficiency as diseases of defective cytokine signaling, adenosine deaminase deficiency as the first described genetic defect causing primary immunodeficiency disorder, how common variable immune deficiency has changed during six decades, and how primary immunodeficiencies have made gene therapy a reality.
New insights into adenosine-receptor-mediated immunosuppression and the role of adenosine in causing the immunodeficiency associated with adenosine deaminase deficiency.
We report the case of a 6 years old girl having severe combined immunodeficiency due to adenosine deaminase deficiency.
MSUD is a genetic defect that is exhibited by an error at several points in the metabolic pathway (as is true for, say, phenyketonuria, PKU), it can be treated by diet (again as can PKU) and recently, thanks to our new knowledge of genetics and the human genome and technology developed for treatment of other inborn errors such as adenosine deaminase deficiency, gene therapy is available.
They address the move toward a universal platform for autologous stem cell gene therapy and also address adenosine deaminase deficiency, insertion of a transgene into Chromosome 19, site-specific integrating vectors, gene targeting, engineering of homing endonucleases and novel sequence-specific DNA binding and modifying, gene targeting mediated by hyper-dependent adenoviral vectors, and multipotent progenitor cells.
Metabolic consequences of adenosine deaminase deficiency in mice are associated with defects in alveogenesis, pulmonary inflammation, and airway obstruction.
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.
PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency.

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