Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.

Cell - 4 Sept 2025

Walsh Zachary H, Frangieh Chris J, Kothapalli Neeharika, Levy Jay, Heck Clarissa K, Melms Johannes C, Gejman Ron S, Shah Parin, Pollard Jared M, Naik Akul, Grauman Sarah L, Huang Lei Haley, Lee Ashley, Bogunovic Dusan, Milner Joshua D, Izar Benjamin

Abstract excerpt

Next-generation sequencing is pivotal for diagnosing inborn errors of immunity (IEI) but predominantly yields variants of uncertain significance (VUS), creating clinical ambiguity. Activated PI3Kδ syndrome (APDS) is caused by gain-of-function (GOF) variants in PIK3CD or PIK3R1, which encode the PI3Kδ heterodimer. We performed massively parallel base editing of PIK3CD/PIK3R1 in human T cells and mapped thousands...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Class I Phosphatidylinositol 3-Kinases
Share to Class Ia Phosphatidylinositol 3-Kinase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gain of Function Mutation

Share to Genetic Variation

Share to High-Throughput Nucleotide Sequencing

Share to Primary Immunodeficiency Diseases

Share to Signal Transduction

Share to T-Lymphocytes

Source

Open in PubMed Open full text

Identifiers

PMID: 40543502
DOI: 10.1016/j.cell.2025.05.037
PMCID: PMC12514753

Genes

PIK3CD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.PMID 40543502Read ↗

Hyperactivation of the PI3K pathway in inborn errors of immunity: current understanding and therapeutic perspectivesSemantic proximity Read ↗

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges.Semantic proximity Read ↗

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.Semantic proximity Read ↗

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisSemantic proximity Read ↗

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysisSemantic proximity Read ↗

NGS data analysis for molecular diagnosis of Inborn Errors of Immunity.Semantic proximity Read ↗

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approachSemantic proximity Read ↗

Mapping variant effects on anti-tumor hallmarks of primary human T cells with base-editing screens.Semantic proximity Read ↗

Massively parallel base editing screens to map variant effects on anti-tumor hallmarks of primary human T cellsSemantic proximity Read ↗

Decoding disease-relevant variants with base and prime editors at scale.Semantic proximity Read ↗

Exome and genome sequencing for inborn errors of immunity.Semantic proximity Read ↗

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.