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Activated phosphoinositide 3-kinase δ syndrome associated with nephromegaly, growth hormone deficiency, bronchiectasis: a case report
BACKGROUND: Activated phosphoinositide 3-kinase (PI3K) δ syndrome (APDS) is a rare form of primary immunodeficiency with 243 known cases reported in the literature. Known findings associated with the condition include recurrent sinusitis and bronchitis, bronchiectasis, immune cytopenias, mild develo...
Autores principales: | Craig, Megan, Geng, Bob, Wigby, Kristen, Phillips, Susan A., Bakhoum, Christine, Naheedy, John, Cernelc-Kohan, Mateja |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862239/ https://www.ncbi.nlm.nih.gov/pubmed/35189965 http://dx.doi.org/10.1186/s13223-022-00655-5 |
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