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	Hvor ofte den forekommer
Combined immunodeficiency	Alltid
Pneumocystis jirovecii pneumonia	Alltid
Pneumonia	Svært ofte (80–99 %)
Red scaly skin caused by inflammatory skin disease	Svært ofte (80–99 %)
Severe combined immunodeficiency	Svært ofte (80–99 %)
Infection in blood stream	Ofte (30–79 %)
Recurrent bacterial infections	Ofte (30–79 %)
Recurrent opportunistic infections	Ofte (30–79 %)
Recurrent pneumonia	Ofte (30–79 %)
Skin rash	Ofte (30–79 %)
Autoimmunity	Noen ganger (5–29 %)
Recurrent bacterial skin infections	Noen ganger (5–29 %)
Recurrent cutaneous fungal infections	Noen ganger (5–29 %)
Recurrent Haemophilus influenzae infection	Noen ganger (5–29 %)
Recurrent mucocutaneous candidiasis	Noen ganger (5–29 %)
Severe recurrent varicella	Noen ganger (5–29 %)
Susceptibility to herpesvirus	Noen ganger (5–29 %)
Recurrent bacterial meningitis	Ikke registrert
Recurrent bronchitis	Ikke registrert
Recurrent fungal infections	Ikke registrert
Severe T-cell immunodeficiency	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Abnormal lymphocyte morphology	Svært ofte (80–99 %)
Decreased blood lymphocyte number	Svært ofte (80–99 %)
Decreased naive T cell proportion	Svært ofte (80–99 %)
Decreased total CD4+ T cell proportion	Svært ofte (80–99 %)
Reduced total natural killer cell count	Svært ofte (80–99 %)
Abnormally low T cell receptor excision circle level	Ofte (30–79 %)
Elevated white blood count	Ofte (30–79 %)
High blood eosinophil count	Ofte (30–79 %)
Low T cell count	Ofte (30–79 %)
Cancer of lymphatic system	Noen ganger (5–29 %)
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)
Lymphoproliferative disorder	Sjelden (1–4%)
Decreased total CD8+ T cell proportion	Ikke registrert

Abnormal cellular phenotype

Trait	Hvor ofte den forekommer
Abnormal circulating immunoglobulin concentration	Svært ofte (80–99 %)
Decreased mitogen-induced T-cell proliferation	Svært ofte (80–99 %)
Decreased circulating IgA concentration	Ofte (30–79 %)
Decreased circulating IgG concentration	Ofte (30–79 %)
Increased circulating IgG concentration	Sjelden (1–4%)
Abnormal natural killer cell physiology	Ikke registrert
Agammaglobulinemia	Ikke registrert
Decreased circulating IgE concentration	Ikke registrert
Decreased circulating IgM concentration	Ikke registrert
Impaired phytohemagglutinin-induced T lymphocyte transformation	Ikke registrert

Abnormality of the cardiovascular system

Trait	Hvor ofte den forekommer
Swollen lymph nodes	Svært ofte (80–99 %)
Increased spleen size	Ofte (30–79 %)
Absent tonsils	Noen ganger (5–29 %)
Small lymph nodes	Noen ganger (5–29 %)
Small thymus	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Chronic diarrhea	Svært ofte (80–99 %)
Enlarged liver	Svært ofte (80–99 %)
Diarrhea	Ofte (30–79 %)
Jaundice	Sjelden (1–4%)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Hair loss	Svært ofte (80–99 %)
Dry skin	Ofte (30–79 %)
Itching	Ofte (30–79 %)
Thickened skin	Ofte (30–79 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Chronic oral thrush	Ofte (30–79 %)
Sparse or absent eyebrows	Ofte (30–79 %)
Sinus disease	Ikke registrert

Laboratory abnormality

Trait	Hvor ofte den forekommer
Episodic fever	Svært ofte (80–99 %)
Fever	Ofte (30–79 %)
Fluid retention	Ofte (30–79 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Abnormality of the wide portion of a long bone	Noen ganger (5–29 %)
Short toe	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Thyroid gland inflammation	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Desquamation of skin soon after birth	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Middle ear infection	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Nephrotic syndrome	Noen ganger (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Cough	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Faltering weight	Svært ofte (80–99 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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