Traits

Traits linked to IL2RA

interleukin 2 receptor subunit alpha

The Human Phenotype Ontology links 80 traits to IL2RA, 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
Decreased specific anti-polysaccharide antibody concentration	Always
Eczema	Always
Psoriasiform dermatitis	Always
Recurrent bacterial infections	Always
Recurrent fungal infections	Always
Recurrent respiratory infections	Always
Recurrent viral infections	Always
Red scaly skin caused by inflammatory skin disease	Always
Severe varicella zoster infection	Always
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

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Always
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 blood and blood-forming tissues

Trait	How often it is seen
Decreased regulatory T cell proportion	Always
Hemolytic anemia	Always
Inverted CD4:CD8 ratio	Always
Low B cell count	Always
Low T cell count	Always
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
Faltering weight	Often (30–79%)
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
Type 1 diabetes	Always
High ESR	Often (30–79%)
Joint swelling	Often (30–79%)
Low-grade fever	Sometimes (5–29%)
Diabetes mellitus	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Boxer's nasal deformity	Always
Chronic oral thrush	Always
Prominent forehead	Always
Abnormality of the jaw joint	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased anti-CD3/28-induced T-cell proliferation	Always
Decreased circulating IgA concentration	Always
Increased circulating IgE concentration	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Enlarged tonsils	Always
Swollen lymph nodes	Always

Abnormality of the integument

Trait	How often it is seen
Alopecia universalis	Always
Patchy baldness	Always
Scaling skin	Always

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Villous atrophy	Always

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Always
Underactive thyroid	Always

Abnormality of the respiratory system

Trait	How often it is seen
Lung infiltrates	Always
Pulmonary interstitial lymphocyte infiltration	Always

Constitutional symptom

Trait	How often it is seen
Joint pain	Often (30–79%)
Muscle ache	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 IL2RA and how often each is seen. Find out more at hpo.jax.org.

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