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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...

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Detalles Bibliográficos
Autores principales: Craig, Megan, Geng, Bob, Wigby, Kristen, Phillips, Susan A., Bakhoum, Christine, Naheedy, John, Cernelc-Kohan, Mateja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
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