Trait

Abnormal circulating interleukin concentration

The concentration of an interleukin (a class of cytokines) is outside the limits of normal.

Also called: Abnormal serum IL level, Abnormal serum interleukin level, Abnormality of IL secretion, Abnormality of interleukin secretion
Body system: Abnormality of the immune system

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18 genes linked to Abnormal circulating interleukin concentration

Changes in these genes cause rare conditions in which Abnormal circulating interleukin concentration 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.

Gene	How often it is seen	Conditions
IL12RB1interleukin 12 receptor subunit beta 1	Very often (80–99%)	In 1 condition
MEFVMEFV innate immunity regulator, pyrin	Very often (80–99%)	In 1 condition
PTPN6protein tyrosine phosphatase non-receptor type 6	Very often (80–99%)	In 1 condition
SP110SP110 nuclear body protein	Very often (80–99%)	In 1 condition
ANKRD55ankyrin repeat domain 55	Often (30–79%)	In 1 condition
CASP10caspase 10	Often (30–79%)	In 1 condition
CD247CD247 molecule	Often (30–79%)	In 1 condition
FASFas cell surface death receptor	Often (30–79%)	In 1 condition
FASLGFas ligand	Often (30–79%)	In 1 condition
IL2RAinterleukin 2 receptor subunit alpha	Often (30–79%)	In 1 condition
IL2RBinterleukin 2 receptor subunit beta	Often (30–79%)	In 1 condition
PTPN2protein tyrosine phosphatase non-receptor type 2	Often (30–79%)	In 1 condition
PTPN22protein tyrosine phosphatase non-receptor type 22	Often (30–79%)	In 1 condition
STAT4signal transducer and activator of transcription 4	Often (30–79%)	In 1 condition
ABCB11ATP binding cassette subfamily B member 11	Sometimes (5–29%)	In 1 condition
ABCB4ATP binding cassette subfamily B member 4	Sometimes (5–29%)	In 1 condition
ATP8B1ATPase phospholipid transporting 8B1	Sometimes (5–29%)	In 1 condition
NR1H4nuclear receptor subfamily 1 group H member 4	Sometimes (5–29%)	In 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.

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Broader traits

Abnormal circulating cytokine concentration

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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