lymphoproliferative syndrome 2
Findings
No curated finding names lymphoproliferative syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.
Definition from the Mondo Disease Ontology (MONDO:0014054), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
22 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.
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 reported patients
- LymphadenopathyHPOHP:0002716
- 10 of 19 reported patients
- Persistent EBV viremiaHPOHP:0020072
- 15 of 29 reported patients
- Lymphoproliferative disorderHPOHP:0005523
- 9 of 25 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 6 of 19 reported patients
- FeverHPO
Show the remaining 10
- Hodgkin lymphomaHPOHP:0012189
- 3 of 17 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 3 of 17 reported patients
- EBV encephalitisHPOHP:0033509
- 1 of 7 reported patients
- Aplastic anemiaHPOHP:0001915
- 2 of 19 reported patients
- EBV meningitisHPOHP:0033508
- 1 of 17 reported patients
- PancytopeniaHPOHP:0001876
- 1 of 17 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.
- CD27HGNC:11922
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
4 names
Resolves to: lymphoproliferative syndrome 2
- Also called
- CD27 lymphoproliferative syndromeCD27-related lymphoproliferative and immune disorderLPFS2lymphoproliferative syndrome caused by mutation in CD27