Traits

Traits linked to JAK3

Janus kinase 3

The Human Phenotype Ontology links 39 traits to JAK3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Always
Recurrent chest infections	Always
Recurrent opportunistic infections	Often (30–79%)
Recurrent respiratory infections	Often (30–79%)
Pimple	Sometimes (5–29%)
Recurrent pneumonia	Sometimes (5–29%)
Recurrent viral infections	Sometimes (5–29%)
Skin rash	Rarely (1–4%)
Meningitis	Not recorded
Severe combined immunodeficiency	Not recorded
Severe T-cell immunodeficiency	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of B cell physiology	Always
Decreased anti-CD3/28-induced T-cell proliferation	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Always
Panhypogammaglobulinemia	Always
Decreased mitogen-induced T-cell proliferation	Very often (80–99%)
Impaired T cell function	Very often (80–99%)
Decreased circulating IgA concentration	Sometimes (5–29%)
Decreased circulating IgG concentration	Sometimes (5–29%)
Decreased circulating IgM concentration	Sometimes (5–29%)
Cutaneous anergy	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Always
Low T cell count	Always
Absent natural killer cells	Often (30–79%)
Low B cell count	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Recurrent infection of the gastrointestinal tract	Sometimes (5–29%)
Abnormal connection between rectum and vagina	Rarely (1–4%)
Intestinal obstruction	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Always
Chronic oral thrush	Often (30–79%)
Abnormal facial shape	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Absent peripheral lymph nodes in presence of infection	Always
Enlarged liver and spleen	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Acute middle ear infection	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Faltering weight in infancy	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Patchy darkened skin	Rarely (1–4%)

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 JAK3 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test