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lymphoproliferative syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphoproliferative syndrome 2

MONDO:0014054

Also known as:CD27 lymphoproliferative syndromeLPFS2lymphoproliferative syndrome caused by mutation in CD27

Overview

Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.

GeneticsAutosomal recessive · CD27 (chr 12)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Enlarged liver (hepatomegaly) and Enlarged spleen (splenomegaly); and common findings: Decreased circulating immunoglobulin concentration, Lymphoproliferative disorder, Persistent EBV viremia, and Lymphadenopathy and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	7	Lymphoproliferative disorder, Hodgkin lymphoma, Aplastic anemia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CD27 encodes CD27 molecule (260 aa). Costimulatory immune-checkpoint receptor expressed at the surface of T-cells, NK-cells and B-cells which binds to and is activated by its ligand CD70/CD27L expressed by B-cells. Highest expression in Cells EBV-transformed lymphocytes (172.5 TPM) and Spleen (95.1 TPM).

Lymphoproliferative syndrome 2 is associated with mutations in the CD27 gene on chromosome 12.

The CD27 protein participates in N-glycosylated CD274 and CD274 Transcription pathways.

CD27 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Protease Inhibitor categories) with score 14.9.

Diagnosis

Genetic testing for CD27 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lymphoproliferative syndrome 2.

3 publications have been identified in PubMed for lymphoproliferative syndrome 2. Research spans Case Report / Case Series (67%) and Clinical Trial Publication (33%).

Recent Publications

Eren Akarcan S (2026). [PMID: 41998580](https://pubmed.ncbi.nlm.nih.gov/41998580/). *BMC Pediatr*. [Case Report / Case Series]
Sun Y (2025). [PMID: 40296086](https://pubmed.ncbi.nlm.nih.gov/40296086/). *J Med Case Rep*. [Case Report / Case Series]
Lee WI (2024). [PMID: 38838929](https://pubmed.ncbi.nlm.nih.gov/38838929/). *Clin Immunol*. [Clinical Trial Publication]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615122

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lymphoproliferative syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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