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Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency

We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in partial DiGeorge syndrome with normal T-cell counts a...

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Podrobná bibliografie
Vydáno v:BMJ Case Rep
Hlavní autoři: Abraitytė, Simona, Kotsi, Elisabeth, Devlin, Lisa Anne, Edgar, John David Moore
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7046411/
https://ncbi.nlm.nih.gov/pubmed/32107256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-232741
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