autoimmune lymphoproliferative syndrome type 2A
Findings
No curated finding names autoimmune lymphoproliferative syndrome type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma.
Definition from the Mondo Disease Ontology (MONDO:0011383), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
12 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.
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 1 reported patient
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Increased double-negative T cell numberHPOHP:0002851
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient · Infantile onset
- Rheumatoid factor positiveHPO
Genes
1 gene
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.
- CASP10HGNC:1500
- Strong · G2P · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
8 names
Resolves to: autoimmune lymphoproliferative syndrome type 2A
- Also called
- ALPS-CASP10ALPS2Aautoimmune lymphoproliferative syndrome caused by mutation in CASP10autoimmune lymphoproliferative syndrome-CASP10 variantautoimmune lymphoproliferative syndrome, type IICASP10 autoimmune lymphoproliferative syndrometype 2 ALPStype 2 autoimmune lymphoproliferative syndrome