Long-term enzyme replacement therapy feasible in ADA-deficient patients

Long-term enzyme replacement therapy feasible in ADA-deficient patients

medwireNews: Enzyme replacement therapy over the long term could be an option for patients with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) for whom curative therapies are unavailable, say US researchers who describe a patient who has remained on treatment for 24 years.

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Cytoreductive conditioning intensity linked to post-gene therapy clonal, TCR diversity

Cytoreductive conditioning intensity linked to post-gene therapy clonal, TCR diversity

medwireNews: In patients with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID) receiving gammaretroviral gene therapy, the intensity of cytoreductive conditioning could have a bearing on the success of the procedure, in terms of clonal diversity and the T-cell receptor (TCR) repertoire, research indicates.

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Neurological, behavioural defects an intrinsic manifestation of ADA deficiency

Neurological, behavioural defects an intrinsic manifestation of ADA deficiency

medwireNews: Neurological and behavioural impairments are not uncommon in patients with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID), report Italian researchers who propose aberrant adenosine metabolism in the brain as the underlying cause.

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ADA-SCID testing can be incorporated in routine neonatal screening

ADA-SCID testing can be incorporated in routine neonatal screening

medwireNews: An Italian research team has developed an analytical method that enables the inclusion of adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) testing in a tandem mass spectrometry-based newborn screening programme.

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Renal manifestation of ADA deficiency identified

Renal manifestation of ADA deficiency identified

medwireNews: Adenosine deaminase (ADA) deficiency can present as atypical haemolytic uraemic syndrome (HUS), say researchers who describe four such cases in the Journal of Clinical Immunology.

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Tandem mass spectrometry detects delayed-onset ADA-SCID

Tandem mass spectrometry detects delayed-onset ADA-SCID

medwireNews: Tandem mass spectrometry (MS), but not T-cell receptor excision circle (TREC) analysis, can identify newborns likely to develop delayed- or late-onset adenosine deaminase–severe combined immunodeficiency (ADA-SCID), findings indicate.

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Spotlight on haematopoietic stem cell transplantation in ADA-SCID patients

Spotlight on haematopoietic stem cell transplantation in ADA-SCID patients

medwireNews: A multicentre review of patients with adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) treated with haematopoietic stem cell transplantation (HCT) details the outcomes of these patients.

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Cytoreductive conditioning essential for maximising gene therapy benefits

Cytoreductive conditioning essential for maximising gene therapy benefits

medwireNews: The outcomes of two patients with adenosine deaminase (ADA)-deficiency who underwent stem cell gene therapy (SCGT) without cytoreductive conditioning reinforce the importance of cytoreduction to ensure maximal benefits from gene therapy, report investigators.

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Single-centre experience of ADA-deficient patients charted

Single-centre experience of ADA-deficient patients charted

medwireNews: A report published in the Journal of Clinical Immunology describes the genetic features and treatment course of children diagnosed with adenosine deaminase (ADA) deficiency at a single institution in Italy from 1997-2013. All 27 patients (14 female) were diagnosed at the Children’s Hospital in Brescia, with the majority displaying symptoms between 3 days to 7 months…

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ADA mutations in UK patients with ADA-deficient SCID mapped

ADA mutations in UK patients with ADA-deficient SCID mapped

medwireNews: Investigators have characterised the mutations, including several previously unreported ones, present in the adenosine deaminase gene (ADA) of a UK cohort of patients with ADA-deficient severe combined immunodeficiency (SCID).

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