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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ADA-SCID patients predisposed to develop rare pulmonary disorder

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

‘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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Impulse oscillometry can detect lung dysfunction in ADA-SCID patients

Impulse oscillometry can detect lung dysfunction in ADA-SCID patients

medwireNews: Impulse oscillometry could be a useful modality for assessing lung function in children with adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID), say researchers.

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Behavioural abnormalities common in patients with ADA-SCID

Behavioural abnormalities common in patients with ADA-SCID

medwireNews: A single-centre study reveals the presence of significant behavioural problems among patients with adenosine deaminase deficient-severe combined immunodeficiency (ADA-SCID) who have undergone bone marrow transplantation.

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