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

Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.

Pediatric research - 1 Feb 2009

Fuchs Hans, Posovszky Carsten, Lahr Georgia, van der Werff ten Bosch Jutte, Boehler Thomas, Debatin Klaus-Michael

Abstract excerpt

Human autoimmune lymphoproliferative syndrome (ALPS) is caused by defective CD95-mediated apoptosis of lymphocytes. In most patients, heterozygous mutations within the CD95 gene are found. Mutated proteins interfere with CD95-signaling in a dominant-negative way. However, the penetrance of clinical disease is variable. We describe 13 patients out of nine families with the clinical presentation of ALPS. Eight...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Diseases
Share to B-Lymphocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caspase 8

Share to Cell Transformation, Viral

Share to fas Receptor

Share to Herpesvirus 4, Human

Share to Lymphoproliferative Disorders

Share to Staphylococcal Protein A

Source

Identifiers

PMID: 18948840
DOI: 10.1203/PDR.0b013e318191f7e4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Residual CD95-pathway function in children with autoimmune lymphoproliferative syndrome is independent from clinical state and genotype of CD95 mutation.PMID 18948840Read ↗

Clinical, Immunologic, and Genetic Features of an Autoimmune Lymphoproliferative Syndrome Associated With Abnormal Lymphocyte ApoptosisSemantic proximity Read ↗

The genetic landscape of the FAS pathway deficiencies.Semantic proximity Read ↗

Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).Semantic proximity Read ↗

Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathwaysSemantic proximity Read ↗

Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type IaSemantic proximity Read ↗

Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency.Semantic proximity Read ↗

The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.Semantic proximity Read ↗

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

Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype.Semantic proximity Read ↗

ALPS: an autoimmune human lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.Semantic proximity Read ↗

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.Semantic proximity Read ↗

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