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autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

MONDO:8000024

Overview

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

GeneticsAutosomal recessive · PRKCD (chr 3)

OnsetJUVENILE, CHILDHOOD, INFANTILE

ResearchLimited published research (1 article)

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: Nephrotic syndrome, Recurrent lower respiratory tract infections, Persistent EBV viremia, and Antinuclear antibody positivity and others; and common findings: Stage 5 chronic kidney disease, Alopecia, Autoimmune hemolytic anemia, and Enlarged liver (hepatomegaly) and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	9

Genetic Landscape

PRKCD function has not been fully characterized.

Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD is associated with mutations in the PRKCD gene on chromosome 3.

Diagnosis

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

Prognosis

Phenotype severity distribution: 30 always present features, 10 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 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD.

1 publication has been identified in PubMed for autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhang C (2024). [PMID: 38772735](https://pubmed.ncbi.nlm.nih.gov/38772735/). *Nephrol Dial Transplant*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615559

Orphanet

European rare disease database

Orphanet:664711

GARD

Genetic and Rare Diseases Info Center

GARD:15987

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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autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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