Chest radiographs may help diagnose ADA-SCID early

Chest radiographs may help diagnose ADA-SCID early

medwireNews: Skeletal abnormalities visible on chest radiographs may help to distinguish adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) from other forms of SCID in infants, suggests a chart review. The abnormalities in question include squaring or spurring of the inferior scapular angle and cupping of the costochondral junctions. “Recognition of these radiological features should trigger focused…

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Potential of RNA sequencing for ADA-SCID diagnosis highlighted

Potential of RNA sequencing for ADA-SCID diagnosis highlighted

medwireNews: RNA sequencing could serve as a complementary modality to standard DNA testing to aid the molecular diagnosis of adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID), suggest UK researchers. They describe the case of a 7-year-old girl who was diagnosed with late-onset ADA deficiency caused by two previously unreported mutations, one of which was only identified…

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Maternal T-cell engraftment may delay ADA-SCID diagnosis

Maternal T-cell engraftment may delay ADA-SCID diagnosis

medwireNews: Engraftment of maternally derived T cells could complicate the diagnosis of adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID) in the child, say the authors of a case report. The team from ASST Spedali Civili of Brescia in Italy describes a child who presented at the age of 3.2 months with “a history of frequent bronchiolitis associated with…

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Early ERT initiation ameliorates hearing abnormalities in ADA-deficient mice

Early ERT initiation ameliorates hearing abnormalities in ADA-deficient mice

medwireNews: Prompt initiation of enzyme replacement therapy (ERT) improves the hearing defects exhibited by mice deficient in adenosine deaminase (ADA), study results show. Early treatment with polyethylene glycol (PEG)-modified ADA also had a positive effect on immune abnormalities, but “whether similar benefits can also be achieved in ADA-deficient patients remains to be determined”, say Eyal…

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Consensus guidelines for management of ADA-SCID released

Consensus guidelines for management of ADA-SCID released

In light of the advances in the treatment options for ADA deficiency that have occurred since the initial set of guidelines were issued almost a decade ago, the group – comprising clinicians and researchers as well as representatives of patient advocacy groups, the pharmaceutical industry and US government – set out “to review the new…

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Neutropenia a frequent occurrence in ADA-SCID

Neutropenia a frequent occurrence in ADA-SCID

medwireNews: Neutropenia could be a presenting feature of adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID), say investigators after detecting it in more than half of the patients in their chart review.

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Case series of ADA-deficient patients characterised

Case series of ADA-deficient patients characterised

medwireNews: Researchers have characterised the clinical features and outcomes of 13 patients with adenosine deaminase (ADA) deficiency.

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Lymphoproliferative disorders not uncommon in ADA-SCID patients

Lymphoproliferative disorders not uncommon in ADA-SCID patients

medwireNews: There is a “significant” incidence of lymphoma among individuals with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID), say investigators who identified eight such cases in the literature in addition to their report of a patient with plasmablastic disease.

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Short- and medium-term safety profile of ADA-SCID gene therapy described

Short- and medium-term safety profile of ADA-SCID gene therapy described

medwireNews: Researchers report on the short- and medium-term adverse event (AE) profile of gene therapy with autologous retroviral vector-transduced CD34+ cells in a cohort of 18 patients with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID).

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Vector-transduced cell tracking feasible in gene therapy-treated ADA-SCID patients

Vector-transduced cell tracking feasible in gene therapy-treated ADA-SCID patients

medwireNews: Japanese researchers have developed a single cell-based method that enables the tracking of vector-transduced cells in adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID) patients treated with stem-cell gene therapy.

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