Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency.
Sign Up to like & getrecommendations! Published in 2020 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2019.12.006
Abstract: BACKGROUND Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt. OBJECTIVES To describe patients with APDS in… read more here.
Keywords: delta syndrome; cohort; primary immune; immune deficiency ... 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
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Allergy and Immunology"
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