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
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
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
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
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
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
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
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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ADA-SCID patients predisposed to develop rare pulmonary disorder
medwireNews: Patients with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID) are more likely to develop pulmonary alveolar proteinosis (PAP) than those with SCID attributable to other genetic causes, reports a Canadian team.
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‘Excellent’ medium-term outcomes with gene therapy in ADA-SCID
medwireNews: Researchers report promising medium-term survival and immune reconstitution outcomes in patients with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) treated with gene therapy.
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