Trait

Impaired T cell function

Clinical name: Abnormal T cell physiology

A functional anomaly of T cells.

HPO HP:0011840

Also called: Abnormality of T cell physiology
Body system: Abnormal cellular phenotype Abnormality of blood and blood-forming tissues Laboratory abnormality Abnormality of the immune system

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31 genes linked to Impaired T cell function

Changes in these genes cause rare conditions in which Impaired T cell function 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
CIITAclass II major histocompatibility complex transactivator	Very often (80–99%)	In 1 condition
JAK3Janus kinase 3	Very often (80–99%)	In 1 condition
RFX5regulatory factor X5	Very often (80–99%)	In 1 condition
RFXANKregulatory factor X associated ankyrin containing protein	Very often (80–99%)	In 1 condition
RFXAPregulatory factor X associated protein	Very often (80–99%)	In 1 condition
ADAadenosine deaminase	Often (30–79%)	In 1 condition
ARVCFARVCF delta catenin family member	Often (30–79%)	In 1 condition
COMTcatechol-O-methyltransferase	Often (30–79%)	In 1 condition
GP1BBglycoprotein Ib platelet subunit beta	Often (30–79%)	In 1 condition
HIRAhistone cell cycle regulator	Often (30–79%)	In 1 condition
JMJD1Cjumonji domain containing 1C	Often (30–79%)	In 1 condition
RREB1ras responsive element binding protein 1	Often (30–79%)	In 1 condition
SEC24CSEC24 homolog C, COPII component	Often (30–79%)	In 1 condition
SMARCAL1SNF2 related chromatin remodeling annealing helicase 1	Often (30–79%)	In 1 condition
TBX1T-box transcription factor 1	Often (30–79%)	In 3 conditions
UFD1ubiquitin recognition factor in ER associated degradation 1	Often (30–79%)	In 1 condition
UMPSuridine monophosphate synthetase	Often (30–79%)	In 2 conditions
COG6component of oligomeric golgi complex 6	Sometimes (5–29%)	In 1 condition
DGCR2DiGeorge syndrome critical region gene 2	Sometimes (5–29%)	In 1 condition
DGCR6DiGeorge syndrome critical region gene 6	Sometimes (5–29%)	In 1 condition
DGCR8DGCR8 microprocessor complex subunit	Sometimes (5–29%)	In 1 condition
ESS2ess-2 spliceosome associated protein	Sometimes (5–29%)	In 1 condition
GATA3GATA binding protein 3	Rarely (1–4%)	In 1 condition
CD19CD19 molecule	Not recorded	In 1 condition
CR2complement C3d receptor 2	Not recorded	In 1 condition
HLA-DRB1major histocompatibility complex, class II, DR beta 1	Not recorded	In 1 condition
ICOSinducible T cell costimulator	Not recorded	In 2 conditions
PNPpurine nucleoside phosphorylase	Not recorded	In 1 condition
SLC39A4solute carrier family 39 member 4	Not recorded	In 1 condition
TNFRSF13BTNF receptor superfamily member 13B	Not recorded	In 1 condition
TNFRSF13CTNF receptor superfamily member 13C	Not recorded	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.

Narrower traits

Broader traits

Abnormal lymphocyte 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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