Successful management of delayed-onset adenosine deaminase deficiency with novel mutation

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dc.contributor.authorÇelik F.Ç.
dc.contributor.authorSoyöz Ö.
dc.contributor.authorBölük S.Ö.
dc.contributor.authorTaşklrdl I.
dc.contributor.authorHacl I.A.
dc.contributor.authorKaya M.A.
dc.contributor.authorDemir A.
dc.contributor.authorUzunoǧlu B.
dc.contributor.authorYlldlrlm A.T.
dc.contributor.authorOnay H.
dc.contributor.authorGözmen S.
dc.contributor.authorGülez N.
dc.contributor.authorGenel F.
dc.date.accessioned2025-04-10T11:03:03Z
dc.date.available2025-04-10T11:03:03Z
dc.date.issued2024
dc.description.abstractA 4-year-old boy presented with acute-onset autoimmune cytopenia with severe, persistent lymphopenia, autoimmune thyroiditis, elevated IgE and glucose 6-phosphate dehydrogenase enzyme deficiency. In immunologic evaluation, lower T, B and natural killer cells and higher levels of adenosine deaminase (ADA) metabolites were observed. The compound heterozygous novel ADA gene mutations causing ADA deficiency were detected. Successful immunologic and metabolic cure was achieved with enzyme replacement therapy, followed by reduced intensity conditioning hematopoietic stem cell transplantation from a matched unrelated donor. An interesting aspect of this patient is the detection of novel compound heterozygous mutations without consanguinity and a secondary outcome is the recovery of glucose 6-phosphate dehydrogenase deficiency after hematopoietic stem cell transplantation. © 2023 Future Medicine Ltd.
dc.identifier.DOI-ID10.2217/pme-2023-0111
dc.identifier.urihttp://hdl.handle.net/20.500.14701/44475
dc.publisherNewlands Press Ltd
dc.titleSuccessful management of delayed-onset adenosine deaminase deficiency with novel mutation
dc.typeArticle

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