Traits

Traits linked to TLR8

toll like receptor 8

The Human Phenotype Ontology links 20 traits to TLR8, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low blood neutrophil count	Always
Low platelet count	Very often (80–99%)
Absence of circulating granulocytes	Often (30–79%)
Autoimmune hemolytic anemia	Often (30–79%)
Bone marrow failure	Often (30–79%)
Low B cell count	Often (30–79%)
Hemophagocytosis	Sometimes (5–29%)
Myelofibrosis	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Antineutrophil antibody positivity	Often (30–79%)
Pneumocystis jirovecii pneumonia	Sometimes (5–29%)
Recurrent infections	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Chronic oral thrush	Sometimes (5–29%)
Recurrent canker sores	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Very often (80–99%)
Swollen lymph nodes	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Growth delay	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Type 1 diabetes	Sometimes (5–29%)

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.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TLR8 and how often each is seen. Find out more at hpo.jax.org.

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