Systematic review of mortality and survival rates for APDS
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that
presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes …
presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes …
Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review
K Büsch, HL Memmott, HM McLaughlin, JEM Upton… - Advances in …, 2024 - Springer
Methods A systematic review was performed according to the Preferred Reporting Items for
Systematic Reviews and Meta-Analyses approach, including all articles published in English …
Systematic Reviews and Meta-Analyses approach, including all articles published in English …
Clinical updates in inborn errors of immunity: a focus on the noninfectious clinical manifestations
E Campbell, MS Shaker… - Current Opinion in …, 2024 - journals.lww.com
Both primary care pediatricians and pediatric subspecialists need to be aware of the
common clinical features associated with IEI and recognize when to refer to allergy …
common clinical features associated with IEI and recognize when to refer to allergy …
Real-world evidence of mortality and survival rates in 256 individuals with APDS
Abstract Activated Phosphoinositide 3-kinase Delta Syndrome (APDS) is a rare genetic
disorder that presents clinically as a primary immunodeficiency. Clinical presentation of …
disorder that presents clinically as a primary immunodeficiency. Clinical presentation of …
Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in PIK3R1 with reduced penetrance
A Szczawińska-Popłonyk, K Bernat-Sitarz… - Allergologia et …, 2022 - all-imm.com
Monoallelic loss-of-function (LOF) mutations in the phosphatidylinositol 3-kinase (PIK3R1)
gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of …
gene affecting the inter-Src homology 2 domain of the p85α regulatory subunit of …
A Novel Case of SHORT Syndrome Presenting with Very Early Onset Inflammatory Bowel Disease (VEO-IBD)
S Fekrvand, M Shahrooei… - Immunology and …, 2024 - publish.kne-publishing.com
Herein we report a novel case of SHORT syndrome with very early onset inflammatory
bowel disease (VEOIBD). He presented with hematochezia since the first months of life for …
bowel disease (VEOIBD). He presented with hematochezia since the first months of life for …
[引用][C] Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome (APSD 2): case report
M Fernandes-Pineda, AF Zea-Vera - Biomédica, 2024