autoimmune lymphoproliferative syndrome
Findings
No curated finding names autoimmune lymphoproliferative syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.
Definition from the Mondo Disease Ontology (MONDO:0017979), read 2026-09-29. CC BY 4.0.
Features
72 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AutoimmunityHPOHP:0002960
- Very frequent (80% to 99% of cases)
- Chronic noninfectious lymphadenopathyHPOHP:0002730
- Very frequent (80% to 99% of cases)
- LymphadenopathyHPOHP:0002716
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
- Abnormal bleedingHPOHP:0001892
- Frequent (30% to 79% of cases)
- Abnormal circulating interleukin concentrationHPOHP:0011117
- Frequent (30% to 79% of cases)
- Abnormal T cell apoptosisHPOHP:0030886
- Frequent (30% to 79% of cases)
- Autoimmune hemolytic anemiaHPOHP:0001890
- Frequent (30% to 79% of cases)
- Autoimmune neutropeniaHPOHP:0001904
- Frequent (30% to 79% of cases)
- Autoimmune thrombocytopeniaHPOHP:0001973
- Frequent (30% to 79% of cases)
- Bruising susceptibilityHPOHP:0000978
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)
Show the remaining 60
- HypersplenismHPOHP:0001971
- Frequent (30% to 79% of cases)
- Increased circulating IgG concentrationHPOHP:0003237
- Frequent (30% to 79% of cases)
- Increased circulating immunoglobulin concentrationHPOHP:0010702
- Frequent (30% to 79% of cases)
- Increased circulating interleukin 10 concentrationHPOHP:0033199
- Frequent (30% to 79% of cases)
- Increased double-negative T cell numberHPOHP:0002851
- Frequent (30% to 79% of cases)
- Increased total B cell countHPOHP:0005404
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FASHGNC:11920
- Definitive · G2P · Autosomal dominant · 2025
- Definitive · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- FASLGHGNC:11936
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- CASP10HGNC:1500
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (9)
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- autoimmune lymphoproliferative syndrome type 1
- autoimmune lymphoproliferative syndrome type 2A
- autoimmune lymphoproliferative syndrome type 2B
- autoimmune lymphoproliferative syndrome type 4
- autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
- Castleman-Kojima disease
- FAS-related autoimmune lymphoproliferative immune disorder
- type 3 autoimmune lymphoproliferative syndrome
Other names
4 names
Resolves to: autoimmune lymphoproliferative syndrome
- Also called
- ALPSALPS (autoimmune lymphoproliferative syndrome)Canale-Smith syndromeFAS deficiency