Traits

Traits linked to FOXP3

forkhead box P3

The Human Phenotype Ontology links 77 traits to FOXP3, by body system: features seen in people with one of the gene's rare conditions.

FOXP3

Abnormality of the immune system

Trait	How often it is seen
Autoimmunity	Very often (80–99%)
Eczema	Very often (80–99%)
Allergy	Often (30–79%)
Anti-glutamic acid decarboxylase antibody positivity	Often (30–79%)
Anti-thyroid peroxidase antibody positivity	Often (30–79%)
Crusting erythematous dermatitis	Often (30–79%)
Food allergy	Often (30–79%)
Inflammatory abnormality of the skin	Often (30–79%)
Severe infection	Often (30–79%)
Anti-liver cytosolic antigen type 1 antibody positivity	Sometimes (5–29%)
Insulin receptor antibody positivity	Sometimes (5–29%)
Psoriasiform dermatitis	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)
Recurrent respiratory infections	Sometimes (5–29%)
Recurrent skin infections	Sometimes (5–29%)
Red scaly skin caused by inflammatory skin disease	Sometimes (5–29%)
Bone infection	Rarely (1–4%)
Infection in blood stream	Rarely (1–4%)
Meningitis	Rarely (1–4%)
Muscle inflammation	Rarely (1–4%)
Pneumonia	Rarely (1–4%)
Immune dysregulation	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Chronic diarrhea	Always
Abnormality of the intestine	Often (30–79%)
Secretory diarrhea	Often (30–79%)
Villous atrophy	Often (30–79%)
Liver inflammation	Sometimes (5–29%)
Malabsorption	Sometimes (5–29%)
Recurrent gastroenteritis	Sometimes (5–29%)
Vomiting	Sometimes (5–29%)
Colitis	Rarely (1–4%)
Dependency on intravenous nutrition	Rarely (1–4%)
Ileus	Rarely (1–4%)
Nasogastric tube feeding	Rarely (1–4%)
Stomach inflammation	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased double-negative T cell number	Often (30–79%)
Iron deficiency anemia	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Autoimmune hemolytic anemia	Sometimes (5–29%)
Autoimmune neutropenia	Sometimes (5–29%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Coombs-positive hemolytic anemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)
Decreased FOXP3-expressing T cell count	Not recorded
High blood eosinophil count	Not recorded

Laboratory abnormality

Trait	How often it is seen
Electrolyte disorders	Often (30–79%)
Type 1 diabetes	Often (30–79%)
Decreased circulating prealbumin concentration	Sometimes (5–29%)
High liver enzymes	Sometimes (5–29%)
Low albumin	Sometimes (5–29%)
Low blood calcium levels	Sometimes (5–29%)
Low blood magnesium levels	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the endocrine system	Often (30–79%)
Thyroid gland inflammation	Often (30–79%)
Underactive thyroid	Sometimes (5–29%)
Overactive thyroid	Rarely (1–4%)

Abnormality of the genitourinary system

Trait	How often it is seen
Glomerulonephritis	Sometimes (5–29%)
Membranous nephropathy	Sometimes (5–29%)
Tubulointerstitial nephritis	Sometimes (5–29%)
Nephrotic syndrome	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hives	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Increased spleen size	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Ventriculomegaly	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Faltering weight in infancy	Often (30–79%)
Wasting syndrome	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)
Interstitial pneumonitis	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	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 FOXP3 and how often each is seen. Find out more at hpo.jax.org.

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