autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
Findings
No curated finding names autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene.
Definition from the Mondo Disease Ontology (MONDO:8000024), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
41 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.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- Absent circulating isohemagglutininHPOHP:0410293
- 1 of 1 reported patient
- Anticardiolipin IgG antibody positivityHPOHP:0020136
- 1 of 1 reported patient · Juvenile onset
- Antinuclear antibody positivityHPOHP:0003493
- 1 of 1 reported patient · Juvenile onset
- 3 of 3 reported patients
- 1 of 1 reported patient
- Decreased class-switched memory B cell proportionHPOHP:0030388
- 1 of 1 reported patient
- Decreased memory B cell proportionHPOHP:0030374
- 1 of 1 reported patient · Childhood onset
Show the remaining 29
- Generalized lymphadenopathyHPOHP:0008940
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient · Childhood onset
- 2 of 3 reported patients
- HepatosplenomegalyHPOHP:0001433
- 2 of 2 reported patients
- Increased CD21low B cell proportionHPOHP:0033207
- 1 of 1 reported patient
- Increased circulating immunoglobulin concentrationHPOHP:0010702
- 1 of 1 reported patient
- Increased total B cell countHPOHP:0005404
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.
- PRKCDHGNC:9399
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025