Traits

Traits linked to STAT1

signal transducer and activator of transcription 1

The Human Phenotype Ontology links 76 traits to STAT1, 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 immune function	Always
Recurrent mucocutaneous candidiasis	Very often (80–99%)
BCGitis	Often (30–79%)
Coccidioidomycosis	Often (30–79%)
Eczema	Often (30–79%)
Immune dysregulation	Often (30–79%)
Inflammatory abnormality of the skin	Often (30–79%)
Recurrent infections	Often (30–79%)
Recurrent mycobacterium avium complex infections	Often (30–79%)
Recurrent viral infections	Often (30–79%)
Severe Histoplasma capsulatum infection	Often (30–79%)
Susceptibility to herpesvirus	Often (30–79%)
Abnormal circulating interferon-gamma concentration	Sometimes (5–29%)
Antiphospholipid antibody positivity	Sometimes (5–29%)
Bone infection	Sometimes (5–29%)
Brain inflammation	Sometimes (5–29%)
Recurrent Aspergillus infection	Sometimes (5–29%)
Recurrent vulvovaginal candidiasis	Sometimes (5–29%)
Unusual fungal nail infection	Sometimes (5–29%)
HSV encephalitis	Not recorded
Recurrent mycobacterial infections	Not recorded
Recurrent respiratory infections	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Brain aneurysm	Often (30–79%)
Carotid artery dilatation	Often (30–79%)
Enlarged liver and spleen	Often (30–79%)
Increased spleen size	Often (30–79%)
Narrowing of kidney artery	Often (30–79%)
Renovascular hypertension	Often (30–79%)
Swollen lymph nodes	Often (30–79%)
Cardiac failure	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Medial calcification of large arteries	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the intestine	Very often (80–99%)
Diarrhea	Often (30–79%)
Enlarged liver	Often (30–79%)
Enterocolitis	Often (30–79%)
Intussusception	Often (30–79%)
Protein-losing enteropathy	Often (30–79%)
Villous atrophy	Often (30–79%)
Esophageal carcinoma	Sometimes (5–29%)
Gastrointestinal eosinophilia	Sometimes (5–29%)
Liver inflammation	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Low B cell count	Often (30–79%)
Autoimmune neutropenia	Sometimes (5–29%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)
Low T cell count	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the endocrine system	Often (30–79%)
Delayed puberty	Often (30–79%)
Primary hypothyroidism	Often (30–79%)
Thyroid gland inflammation	Often (30–79%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
Generalized osteoporosis	Often (30–79%)
Osteopenia	Often (30–79%)
Muscle degeneration	Sometimes (5–29%)
Muscle weakness	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)
Spot on the lung	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)
Weight loss	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Fever	Often (30–79%)
Type 1 diabetes	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased anti-CD3/28-induced T-cell proliferation	Always
Impaired phytohemagglutinin-induced T lymphocyte transformation	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Recurrent colds	Very often (80–99%)
Chronic oral thrush	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Functional abnormality of the bladder	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Oropharyngeal squamous cell carcinoma	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	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 STAT1 and how often each is seen. Find out more at hpo.jax.org.

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