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

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.

The Journal of pediatrics - 1 Nov 2005

Rössler Jochen, Enders Anselm, Lahr Georgia, Heitger Andreas, Winkler Karl, Fuchs Hans, Kopp Matthias, Niemeyer Charlotte, Ehl Stephan

Abstract excerpt

In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndro...

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 fas Receptor
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunophenotyping

Share to Lymphocyte Count

Share to Lymphoproliferative Disorders

Share to Receptors, Antigen, T-Cell, alpha-beta

Share to T-Lymphocyte Subsets

Source

Identifiers

PMID: 16291365
DOI: 10.1016/j.jpeds.2005.07.027

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16291365-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.PMID 16291365Read ↗

Impact of human CD95 mutations on cell death and autoimmunity: a model.Semantic proximity Read ↗

Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity?Semantic proximity Read ↗

Autoimmune lymphoproliferative syndromeSemantic proximity Read ↗

Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation.Semantic proximity Read ↗

Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency.Semantic proximity Read ↗

The broad spectrum of autoimmune lymphoproliferative disease: molecular bases, clinical features and long-term follow-up in 31 patients.Semantic proximity Read ↗

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.Semantic proximity Read ↗

A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant.Semantic proximity Read ↗

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele.Semantic proximity Read ↗

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.Semantic proximity Read ↗

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