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Multicentric dermatofibrosarcoma protuberans in a child with severe combined immunodeficiency due to adenosine deaminase deficiency

30 Apr 2021

Abstract excerpt

We report the case of a 4-year-old boy, post-human stem cell transplantation for severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADA), who developed multiple dermatofibrosarcoma protuberans (DFSP). We hypothesize a role for chimerism leading to accumulation of toxic metabolites which can cause DNA strand breaks and inhibit lymphocyte activation. Patients with ADA-SCID should remain...

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PMID: 33931899
DOI: 10.1111/pde.14597

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