Traits

Traits linked to IL7R

interleukin 7 receptor

The Human Phenotype Ontology links 57 traits to IL7R, by body system: features seen in people with one of the gene's rare conditions.

IL7R

Abnormality of the immune system

Trait	How often it is seen
Recurrent mucocutaneous candidiasis	Always
Recurrent infections	Very often (80–99%)
Red scaly skin caused by inflammatory skin disease	Very often (80–99%)
Severe combined immunodeficiency	Very often (80–99%)
Pneumonia	Often (30–79%)
Recurrent viral infections	Often (30–79%)
Autoimmunity	Sometimes (5–29%)
Infection in blood stream	Sometimes (5–29%)
Neonatal sepsis	Sometimes (5–29%)
Recurrent Candida infection	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Eczema	Not recorded
Recurrent opportunistic infections	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low T cell count	Always
Abnormal lymphocyte morphology	Very often (80–99%)
Decreased blood lymphocyte number	Often (30–79%)
Decreased total CD4+ T cell proportion	Often (30–79%)
Decreased total CD8+ T cell proportion	Often (30–79%)
Elevated white blood count	Often (30–79%)
High blood eosinophil count	Often (30–79%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Cancer of lymphatic system	Sometimes (5–29%)
High lymphocyte count	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased mitogen-induced T-cell proliferation	Often (30–79%)
Increased antibody level in blood	Sometimes (5–29%)
Increased circulating IgA concentration	Sometimes (5–29%)
Increased circulating IgE concentration	Sometimes (5–29%)
Increased circulating IgG concentration	Sometimes (5–29%)

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%)
Psoriasiform lesion	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Chronic diarrhea	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Diarrhea	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Sparse or absent eyebrows	Often (30–79%)
Mouth sore	Sometimes (5–29%)
Recurrent colds	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Very often (80–99%)
Increased spleen size	Often (30–79%)
Enlarged liver and spleen	Sometimes (5–29%)

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 ear

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

Abnormality of the endocrine system

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

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Faltering weight secondary to recurrent infections	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Fluid retention	Often (30–79%)

Abnormality of prenatal development or birth

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

Abnormality of the genitourinary system

Trait	How often it is seen
Nephrotic syndrome	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 IL7R and how often each is seen. Find out more at hpo.jax.org.

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