Traits

Traits linked to IL2RG

interleukin 2 receptor subunit gamma

The Human Phenotype Ontology links 72 traits to IL2RG, 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
Combined immunodeficiency	Always
Pneumocystis jirovecii pneumonia	Always
Pneumonia	Very often (80–99%)
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Infection in blood stream	Often (30–79%)
Recurrent bacterial infections	Often (30–79%)
Recurrent opportunistic infections	Often (30–79%)
Recurrent pneumonia	Often (30–79%)
Skin rash	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Recurrent bacterial skin infections	Sometimes (5–29%)
Recurrent cutaneous fungal infections	Sometimes (5–29%)
Recurrent Haemophilus influenzae infection	Sometimes (5–29%)
Recurrent mucocutaneous candidiasis	Sometimes (5–29%)
Severe recurrent varicella	Sometimes (5–29%)
Susceptibility to herpesvirus	Sometimes (5–29%)
Recurrent bacterial meningitis	Not recorded
Recurrent bronchitis	Not recorded
Recurrent fungal infections	Not recorded
Severe T-cell immunodeficiency	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormal lymphocyte morphology	Very often (80–99%)
Decreased blood lymphocyte number	Very often (80–99%)
Decreased naive T cell proportion	Very often (80–99%)
Decreased total CD4+ T cell proportion	Very often (80–99%)
Reduced total natural killer cell count	Very often (80–99%)
Abnormally low T cell receptor excision circle level	Often (30–79%)
Elevated white blood count	Often (30–79%)
High blood eosinophil count	Often (30–79%)
Low T cell count	Often (30–79%)
Cancer of lymphatic system	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Lymphoproliferative disorder	Rarely (1–4%)
Decreased total CD8+ T cell proportion	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Abnormal circulating immunoglobulin concentration	Very often (80–99%)
Decreased mitogen-induced T-cell proliferation	Very often (80–99%)
Decreased circulating IgA concentration	Often (30–79%)
Decreased circulating IgG concentration	Often (30–79%)
Increased circulating IgG concentration	Rarely (1–4%)
Abnormal natural killer cell physiology	Not recorded
Agammaglobulinemia	Not recorded
Decreased circulating IgE concentration	Not recorded
Decreased circulating IgM concentration	Not recorded
Impaired phytohemagglutinin-induced T lymphocyte transformation	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Very often (80–99%)
Increased spleen size	Often (30–79%)
Absent tonsils	Sometimes (5–29%)
Small lymph nodes	Sometimes (5–29%)
Small thymus	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Diarrhea	Often (30–79%)
Jaundice	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Hair loss	Very often (80–99%)
Dry skin	Often (30–79%)
Itching	Often (30–79%)
Thickened skin	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Chronic oral thrush	Often (30–79%)
Sparse or absent eyebrows	Often (30–79%)
Sinus disease	Not recorded

Laboratory abnormality

Trait	How often it is seen
Episodic fever	Very often (80–99%)
Fever	Often (30–79%)
Fluid retention	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Sometimes (5–29%)
Short toe	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Thyroid gland inflammation	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Desquamation of skin soon after birth	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Middle ear infection	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

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 IL2RG and how often each is seen. Find out more at hpo.jax.org.

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