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First patient in the Iranian Registry with novel DOCK2 gene mutation, presenting with skeletal tuberculosis, and review of literature
BACKGROUND: Dedicator of cytokinesis 2 (DOCK2) deficiency is an inborn error of immunity characterized by cellular and humoral immunological abnormalities leading to early-onset infections. CASE PRESENTATION: We reported a novel case of a 27 months old girl presenting with recurrent pneumonia and a...
Autores principales: | Sharifinejad, Niusha, Sadri, Homa, Kalantari, Arash, Delavari, Samaneh, Noohi, Amirhosein, Aminpour, Yasaman, Sabzevari, Araz, Azizi, Gholamreza |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8647063/ https://www.ncbi.nlm.nih.gov/pubmed/34872585 http://dx.doi.org/10.1186/s13223-021-00631-5 |
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