LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "activated phosphoinositide" as a keyword



Estimated annual direct medical costs of manifestations among patients with activated phosphoinositide 3-kinase delta syndrome

Sign Up to like & get
recommendations! Published in 2025 at "Clinical and Experimental Medicine"

DOI: 10.1007/s10238-025-01773-1

Abstract: Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disease associated with heterogeneous manifestations, including recurrent infections, lymphoproliferation, and autoimmunity. This analysis sought to estimate the mean annual direct medical costs of manifestations associated… read more here.

Keywords: associated apds; activated phosphoinositide; analysis; direct medical ... See more keywords

Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review

Sign Up to like & get
recommendations! Published in 2023 at "Medicine"

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 & get
recommendations! 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 & get
recommendations! 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

A qualitative study to explore the burden of disease in activated phosphoinositide 3-kinase delta syndrome (APDS)

Sign Up to like & get
recommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-024-03215-9

Abstract: Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare primary immunodeficiency, with only 256 cases reported globally. This study aimed to explore the disease burden of APDS from the perspective of individuals with APDS… read more here.

Keywords: disease; apds; activated phosphoinositide; individuals apds ... See more keywords

Key outcomes in treatment of activated phosphoinositide 3-kinase delta syndrome: An e-Delphi panel study and responder threshold application

Sign Up to like & get
recommendations! Published in 2025 at "PLOS One"

DOI: 10.1371/journal.pone.0333341

Abstract: Background Activated phosphoinositide 3-kinase delta syndrome (APDS) is an ultra-rare, underrecognized inborn error of immunity. This study aimed to identify outcomes important in evaluating APDS treatment effectiveness and percent change in specific outcomes indicating a… read more here.

Keywords: treatment; delta syndrome; activated phosphoinositide; phosphoinositide kinase ... See more keywords

Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea

Sign Up to like & get
recommendations! Published in 2020 at "Yonsei Medical Journal"

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

EBV-positive diffuse large B cell lymphoma secondary to activated phosphoinositide 3 kinase δ syndrome type 1 (APDS1): a case report and literature review

Sign Up to like & get
recommendations! Published in 2025 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2025.1583405

Abstract: Activated phosphoinositide 3-kinase δ syndrome (APDS), an inborn error of immunity associated with gain-of-function mutations in the PIK3CD gene, is characterized by dysregulated PI3Kδ signaling. The clinical spectrum commonly includes recurrent respiratory infections and lymphoproliferative… read more here.

Keywords: activated phosphoinositide; kinase syndrome; apds1; cell ... See more keywords