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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...

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Detalles Bibliográficos
Autores principales: Sharifinejad, Niusha, Sadri, Homa, Kalantari, Arash, Delavari, Samaneh, Noohi, Amirhosein, Aminpour, Yasaman, Sabzevari, Araz, Azizi, Gholamreza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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