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

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.

Journal of clinical immunology - 26 Jul 2024

Xu Xinxiu, Denton James, Wu Yaning, Liu Jie, Guan Qiaoning, Dawson D Brian, Bleesing Jack, Zhang Wenying

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder featuring chronic lymphadenopathy, splenomegaly, cytopenias, and increased lymphoma risk. Differentiating ALPS from immunodeficiencies with overlapping symptoms is challenging. This study evaluated the performance and the diagnostic yield of a 15-gene NGS panel for ALPS at Cincinnati Children's Hospital Medical Center. Samples from 802...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Lymphoproliferative Syndrome
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to fas Receptor

Share to Genetic Testing

Share to High-Throughput Nucleotide Sequencing

Share to Hospitals, Pediatric

Share to Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 39060684
DOI: 10.1007/s10875-024-01772-z
PMCID: PMC11282156

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children's Hospital Medical Center.PMID 39060684Read ↗

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?Semantic proximity Read ↗

Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis.Semantic proximity Read ↗

Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: A systematic review.Semantic proximity Read ↗

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.Semantic proximity Read ↗

Autoimmune Lymphoproliferative Syndrome (Alps) Disease and Alps Phenotype: Are They Two Distinct Entities?Semantic proximity Read ↗

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing EraSemantic proximity Read ↗

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

Presentation and diagnosis of autoimmune lymphoproliferative syndrome (ALPS)Semantic proximity Read ↗

New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndromeSemantic proximity Read ↗

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS) or AUTOIMMUNE LYMPHOPROLIFERATIVE IMMUNODEFICIENCY (ALPID): THE ONGOING DIAGNOSTIC DILEMA: A CASE SERIES.Semantic proximity Read ↗

FADD Deficiency Mimicking ALPS-FAS: An Expanding Phenotype.Semantic proximity Read ↗

Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS).Semantic proximity Read ↗

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