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

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

Haematologica - 1 Mar 2013

Lambotte Olivier, Neven Bénédicte, Galicier Lionel, Magerus-Chatinet Aude, Schleinitz Nicolas, Hermine Olivier, Meyts Isabelle, Picard Capucine, Godeau Bertrand, Fischer Alain, Rieux-Laucat Frédéric

Abstract excerpt

A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of...

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 fas Receptor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to FAS gene

Share to Germ-Line Mutation

Share to Haploinsufficiency

Share to Immunodeficiency and Autoimmune Disorders

Share to Mutation

Share to Neonatal Health and Biochemistry

Source

Open in PubMed Open full text

Identifiers

PMID: 22983577
DOI: 10.3324/haematol.2012.067488
PMCID: PMC3659930

Genes

FAS

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

Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.PMID 22983577Read ↗

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

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

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

ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies.Semantic proximity Read ↗

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

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

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.Semantic proximity Read ↗

A genetic disorder of lymphocyte apoptosis involving the fas pathway: the autoimmune lymphoproliferative syndrome.Semantic proximity Read ↗

Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.Semantic proximity Read ↗

Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.Semantic proximity Read ↗

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.Semantic proximity Read ↗

Autoimmune lymphoproliferative syndromeSemantic proximity Read ↗

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