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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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| Udgivet i: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMJ Publishing Group
2020
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| Fag: | |
| Online adgang: | 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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