Report of a Chinese Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome
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DOI: 10.1007/s10875-018-0568-x
Abstract: PurposeWe aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients… read more here.
Keywords: kinase syndrome; report; rapamycin; chinese cohort ... See more keywords
Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review
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DOI: 10.1097/md.0000000000032816
Abstract: Rationale: Activated phosphoinositide 3-kinase δ syndrome (APDS), a recently described primary immunodeficiency,is caused by autosomal dominant mutation in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta(PIK3CD) gene encoding the p110δ catalytic subunit of PI3Kδ (APDS1) or the… read more here.
Keywords: kinase syndrome; kinase; transplantation; activated phosphoinositide ... See more keywords
Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling
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DOI: 10.3389/fped.2021.688022
Abstract: Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or… read more here.
Keywords: magenis syndrome; kinase syndrome; activated pi3; pi3 kinase ... See more keywords