Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

doi:10.1016/j.clim.2017.12.009

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Article

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Clinical immunology (Orlando, Fla.) - 1 Mar 2018

Besnard Caroline, Levy Eva, Aladjidi Nathalie, Stolzenberg Marie-Claude, Magerus-Chatinet Aude, Alibeu Olivier, Nitschke Patrick, Blanche Stéphane, Hermine Olivier, Jeziorski Eric, Landman-Parker Judith, Leverger Guy, Mahlaoui Nizar, Michel Gérard, Pellier Isabelle, Suarez Felipe, Thuret Isabelle, de Saint-Basile Geneviève, Picard Capucine, Fischer Alain, Neven Bénédicte, Rieux-Laucat Frédéric, Quartier Pierre

Abstract excerpt

Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA)...

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Topics

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Share to Thrombocytopenia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adaptor Proteins, Signal Transducing

Share to Anemia, Hemolytic, Autoimmune

Share to Child

Share to Child, Preschool

Share to CTLA-4 Antigen

Share to High-Throughput Nucleotide Sequencing

Share to Purpura, Thrombocytopenic, Idiopathic

Source

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Identifiers

PMID: 29330115
DOI: 10.1016/j.clim.2017.12.009

Genes

FAS
LRBA
CTLA4
KRAS
STAT3

Variants

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.

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