Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers [PDF]
Frontiers in Immunology, 2023 IntroductionThe diagnosis and treatment of inborn errors of immunity (IEI) is a major challenge as the individual conditions are rare and often characterized by a variety of symptoms, which are often non disease-specific. Ideally, patients are treated in
Leif G Hanitsch +2 more
exaly +5 more sources
An updated review on activated PI3 kinase delta syndrome (APDS)
Genes and Diseases, 2020 Activated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary immunodeficiency disease. It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis, clinical manifestations and ...
Ankita Singh +2 more
exaly +4 more sources
Overall survival among patients with activated phosphoinositide 3-kinase delta syndrome (APDS)
Orphanet Journal of Rare DiseasesBackground This study aimed to describe overall survival (OS) of patients with APDS relative to the global population as well as among subsets of patients with concurrent lymphoma or hematopoietic stem cell transplant (HSCT) relative to the overall APDS ...
Malena Mahendran +2 more
exaly +3 more sources
Piloting an automated query and scoring system to facilitate APDS patient identification from health systems [PDF]
Frontiers in ImmunologyIntroductionPatients with activated PI3Kδ syndrome (APDS) may elude diagnoses for nearly a decade. Methods to hasten the identification of these patients, and other patients with inborn errors of immunity (IEIs), are needed. We sought to demonstrate that
Jessica Creech +2 more
exaly +4 more sources
E1021K mutation in PIK3CD gene: clinical heterogeneity and therapeutic implications in three pediatric APDS cases [PDF]
Open Life SciencesThe aim of this study was to characterize the clinical manifestations, treatment responses, and prognostic indicators of activated PI3K-δ syndrome (APDS) in pediatric patients.
Li Changxiao, Han Linlin, Li Qian
doaj +3 more sources
Diagnostic odyssey of patients with the rare immunodeficiency activated PI3 kinase delta syndrome (APDS): case study from expert and patient surveys [PDF]
Frontiers in ImmunologyIntroductionActivated phosphoinositide 3-kinase delta syndrome (APDS) is an inborn error of immunity first described in 2013. With an estimated prevalence of 1–2 per 1,000,000 individuals, it is considered an ultra-rare disease.
Hermann Maximilian Wolf +7 more
doaj +2 more sources
APDS in a 3-year-old boy presenting with EBV viremia and hodgkin lymphoma associated with a novel germline heterozygous variant in PIK3CD and with characteristic immune phenotype but no upregulation of the T cell mTOR pathway [PDF]
Allergy, Asthma & Clinical ImmunologyBackground Activated phosphoinositide 3-kinase δ syndrome (APDS) is an inborn error of immunity in the PIK3CD gene caused by an increase in phosphoinositide 3-kinase δ (PI3Kδ) activity.
Devyani Bakshi +6 more
doaj +2 more sources
Systematic literature reviews to identify epidemiological, clinical, economic and health-related quality of life evidence in activated PI3Kδ syndrome (APDS) [PDF]
BMC ImmunologyBackground Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is an ultra-rare inborn error of immunity, characterised by immunodeficiency and immune dysregulation. Having only been recognised in 2013, evidence on APDS is limited.
Katerina Vlachopoulou +6 more
doaj +2 more sources
Understanding the Effects of Antipsychotics on Appetite Control
Frontiers in Nutrition, 2022 Antipsychotic drugs (APDs) represent a cornerstone in the treatment of schizophrenia and other psychoses. The effectiveness of the first generation (typical) APDs are hampered by so-called extrapyramidal side effects, and they have gradually been ...
Sayani Mukherjee +9 more
doaj +1 more source
Frontiers in Immunology, 2021 Activated phosphoinositide 3-kinase δ syndrome (APDS) is an autosomal dominant primary immunodeficiency caused by acquired gene function mutation (GOF).
Zexi Yin +5 more
doaj +1 more source