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

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

Clinical immunology (Orlando, Fla.) - 1 Jul 2009

Marsh Rebecca A, Villanueva Joyce, Kim Mi-Ok, Zhang Kejian, Marmer Dan, Risma Kimberly A, Jordan Michael B, Bleesing Jack J, Filipovich Alexandra H

Abstract excerpt

Human invariant natural killer T cells (iNKT cells) are a unique population of T cells that express an invariantly rearranged T-cell receptor (TCR) composed of TCRValpha24 and TCRVbeta11 chains which recognize glycosphingolipid antigens presented by the CD1d molecule. iNKT cells are absent in patients with X-linked lymphoproliferative disease (XLP) due to SH2D1A mutation, and are reported to be decreased in...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA Mutational Analysis

Share to Flow Cytometry

Share to Lymphoproliferative Disorders

Share to Natural Killer T-Cells

Share to X-Linked Inhibitor of Apoptosis Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 19398375
DOI: 10.1016/j.clim.2009.03.517
PMCID: PMC2729708

Genes

XIAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.PMID 19398375Read ↗

Clinical and genetic characteristics of XIAP deficiency in Japan.Semantic proximity Read ↗

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.Semantic proximity Read ↗

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation.Semantic proximity Read ↗

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.Semantic proximity Read ↗

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.Semantic proximity Read ↗

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.Semantic proximity Read ↗

Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP.Semantic proximity Read ↗

Clinical Flow Cytometric Screening of SAP and XIAP Expression Accurately Identifies Patients with<i>SH2D1A</i>and<i>XIAP/BIRC4</i>MutationsSemantic proximity Read ↗

A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.Semantic proximity Read ↗

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.Semantic proximity Read ↗

Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.Semantic proximity Read ↗

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.Semantic proximity Read ↗

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