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Trait

Immune dysregulation

Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.

HPO HP:0002958

Summary

Also called
Unregulated immune response
Body system
Abnormality of the immune system

12 genes linked to Immune dysregulation

Changes in these genes cause rare conditions in which Immune dysregulation is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
PDCD1programmed cell death 1AlwaysIn 1 condition
TOP2BDNA topoisomerase II betaAlwaysIn 1 condition
PRF1perforin 1Very often (80–99%)In 1 condition
STX11syntaxin 11Very often (80–99%)In 1 condition
STXBP2syntaxin binding protein 2Very often (80–99%)In 1 condition
UNC13Dunc-13 homolog DVery often (80–99%)In 1 condition
STAT1signal transducer and activator of transcription 1Often (30–79%)In 2 conditions
ACP5acid phosphatase 5, tartrate resistantNot recordedIn 1 condition
FOXP3forkhead box P3Not recordedIn 1 condition
LATlinker for activation of T cellsNot recordedIn 1 condition
LEPRleptin receptorNot recordedIn 1 condition
PLCG2phospholipase C gamma 2Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Abnormality of immune system physiology

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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