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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMJ Case Rep |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2020
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| Θέματα: | |
| Διαθέσιμο Online: | 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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