Traits

Traits linked to IL2RB

interleukin 2 receptor subunit beta

The Human Phenotype Ontology links 59 traits to IL2RB, by body system: features seen in people with one of the gene's rare conditions.

IL2RB

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Very often (80–99%)
Oligoarthritis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Enthesitis	Often (30–79%)
Joint stiffness	Often (30–79%)
Synovial lining hyperplasia	Often (30–79%)
Synovitis	Often (30–79%)
Abnormal cervical spine	Sometimes (5–29%)
Abnormality of the shoulder	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hip osteoarthritis	Sometimes (5–29%)
Rheumatoid arthritis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the ankle	Often (30–79%)
Abnormality of the wrist	Often (30–79%)
Ankle swelling	Often (30–79%)
Knee osteoarthritis	Often (30–79%)
Abnormality of the hand	Sometimes (5–29%)
Abnormality of the hip joint	Sometimes (5–29%)
Abnormality of the knuckle	Sometimes (5–29%)
Abnormality of the long bone of foot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Uveitis	Often (30–79%)
Anterior chamber synechiae	Sometimes (5–29%)
Band keratopathy	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Clouding of the lens of the eye	Rarely (1–4%)
Glaucoma	Rarely (1–4%)
Iridocyclitis	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Very often (80–99%)
Abnormal circulating interleukin concentration	Often (30–79%)
Autoimmunity	Often (30–79%)
Increased circulating interferon-gamma concentration	Often (30–79%)
Decreased immune function	Not recorded
Recurrent respiratory infections	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Mild growth deficiency	Sometimes (5–29%)
Severe growth delay in children	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Persistent CMV viremia	Always
High ESR	Often (30–79%)
Joint swelling	Often (30–79%)
Low-grade fever	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Often (30–79%)
Inverted CD4:CD8 ratio	Often (30–79%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Sometimes (5–29%)
Enlarged liver and spleen	Rarely (1–4%)
Increased spleen size	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Enlarged liver	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Often (30–79%)
Muscle ache	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgG concentration	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the jaw joint	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Frequent urinary tract infections	Not recorded

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Lymphocytic interstitial pneumonia	Always

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 IL2RB and how often each is seen. Find out more at hpo.jax.org.

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