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
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking Lymphoma.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001328
Abstract: Malignant or nonmalignant lymphoproliferative disorders together with repeated ear, nose, and throat infections should strongly motivate immunologic investigations. Indeed, we report a 7-year-old patient with a history of persistent abdominal symptoms along with recurrent ear,… read more here.
Keywords: lymphoma; delta syndrome; activated phosphoinositide; primary immunodeficiency ... See more keywords
Activated phosphoinositide 3‐dinase delta syndrome (APDS): An update
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DOI: 10.1111/pai.13634
Abstract: Activated phosphoinositide 3‐kinase delta syndrome (APDS) is a recently described form of inborn error of immunity (IEI) caused by heterozygous mutations in PIK3CD or PIK3R1 genes, respectively, encoding leukocyte‐restricted catalytic p110δ subunit and the ubiquitously… read more here.
Keywords: syndrome apds; apds; delta syndrome; activated phosphoinositide ... See more keywords
Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea
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DOI: 10.3349/ymj.2020.61.6.542
Abstract: Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein,… read more here.
Keywords: activated phosphoinositide; treatment; phosphoinositide kinase; sirolimus ... See more keywords