autoimmune lymphoproliferative syndrome type 2B
Findings
No curated finding names autoimmune lymphoproliferative syndrome type 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.
Definition from the Mondo Disease Ontology (MONDO:0011804), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 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.
- AsthmaHPOHP:0002099
- 2 of 2 reported patients
- Complete or near-complete absence of specific antibody response to unconjugated pneumococcus polysaccharideHPOHP:0410300
- 2 of 2 reported patients
- Decreased T cell activationHPOHP:0005419
- 2 of 2 reported patients
- Defective B cell activationHPOHP:0005384
- 2 of 2 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
- Inverted CD4:CD8 ratio
Show the remaining 6
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 2 reported patients
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 2 reported patients
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 2 reported patients
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 2 reported patients
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.
- CASP8HGNC:1509
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: autoimmune lymphoproliferative syndrome type 2B
- Also called
- ALPS2Bautoimmune lymphoproliferative syndrome caused by mutation in CASP8autoimmune lymphoproliferative syndrome, type IIBCASP8 autoimmune lymphoproliferative syndromecaspase 8 deficiencycaspase 8 deficiency syndromeCEDS