Traits

Traits linked to CTLA4

cytotoxic T-lymphocyte associated protein 4

The Human Phenotype Ontology links 179 traits to CTLA4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	Hoe vaak het voorkomt
Antinuclear antibody positivity	Heel vaak (80–99%)
Autoimmunity	Heel vaak (80–99%)
Eczema	Heel vaak (80–99%)
Recurrent respiratory infections	Heel vaak (80–99%)
Red scaly skin caused by inflammatory skin disease	Heel vaak (80–99%)
Skin rash	Heel vaak (80–99%)
Allergy	Vaak (30–79%)
Anti-complement component C1q antibody positivity	Vaak (30–79%)
Anti-myeloperoxidase antibody positivity	Vaak (30–79%)
Anti-neutrophil elastase antibody positivity	Vaak (30–79%)
Anti-proteinase 3 antibody positivity	Vaak (30–79%)
Anti-ribosome Po antibody positivity	Vaak (30–79%)
Anti-titin antibody positivity	Vaak (30–79%)
Antineutrophil antibody positivity	Vaak (30–79%)
Baby eczema	Vaak (30–79%)
Cytoplasmic antineutrophil antibody positivity	Vaak (30–79%)
Decreased circulating complement C3 concentration	Vaak (30–79%)
Decreased circulating complement C4 concentration	Vaak (30–79%)
Decreased immune function	Vaak (30–79%)
Increased inflammatory response	Vaak (30–79%)
Malar rash	Vaak (30–79%)
Pneumonia	Vaak (30–79%)
Recurrent chest infections	Vaak (30–79%)
Anti-dsDNA antibody positivity	Soms (5–29%)
Anti-La/SS-B antibody positivity	Soms (5–29%)
Anti-nucleoporin 62 antibody positivity	Soms (5–29%)
Anti-phosphatidic acid antibody positivity	Soms (5–29%)
Anti-Ro52/TRIM21 antibody positivity	Soms (5–29%)
Anti-Sm antibody positivity	Soms (5–29%)
Anti-U1 ribonucleoprotein antibody positivity	Soms (5–29%)
Discoid lupus rash	Soms (5–29%)
Infection in blood stream	Soms (5–29%)
Meningitis	Soms (5–29%)
Psoriasiform dermatitis	Soms (5–29%)
Recurrent Candida infection	Soms (5–29%)
Serositis	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Abnormal lymphocyte morphology	Heel vaak (80–99%)
Abnormal T cell morphology	Heel vaak (80–99%)
Bloody nose	Heel vaak (80–99%)
Cancer of lymphatic system	Heel vaak (80–99%)
Cutaneous T-cell lymphoma	Heel vaak (80–99%)
Decreased blood lymphocyte number	Heel vaak (80–99%)
Granulomatosis	Heel vaak (80–99%)
Autoimmune hemolytic anemia	Vaak (30–79%)
Autoimmune thrombocytopenia	Vaak (30–79%)
Decreased blood leukocyte number	Vaak (30–79%)
Increased CD4:CD8 ratio	Vaak (30–79%)
Recurrent bleeding into lungs	Vaak (30–79%)
Autoimmune neutropenia	Soms (5–29%)
Blood clot in vein	Soms (5–29%)
Blood spots	Soms (5–29%)
Bone marrow disease	Soms (5–29%)
Diffuse alveolar hemorrhage	Soms (5–29%)
Gastrointestinal bleeding	Soms (5–29%)
Hemolytic anemia	Soms (5–29%)
Low platelet count	Soms (5–29%)
Pure red cell aplasia	Zelden (1–4%)

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Dry skin	Heel vaak (80–99%)
Itching	Heel vaak (80–99%)
Lichenification	Heel vaak (80–99%)
Skin cancer	Heel vaak (80–99%)
Skin plaque	Heel vaak (80–99%)
Erythematous macule	Vaak (30–79%)
Hair loss	Vaak (30–79%)
Irregular hyperpigmentation	Vaak (30–79%)
Papule	Vaak (30–79%)
Patchy loss of skin color	Vaak (30–79%)
Poikiloderma	Vaak (30–79%)
Poor nail formation	Vaak (30–79%)
Abnormality of the nail	Soms (5–29%)
Diffuse skin atrophy	Soms (5–29%)
Hyperkeratosis	Soms (5–29%)
Open skin sore	Soms (5–29%)
Photosensitive skin	Soms (5–29%)

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Abnormality of the nose	Heel vaak (80–99%)
Abnormality of the oral cavity	Heel vaak (80–99%)
Sinus disease	Heel vaak (80–99%)
Blocked tear duct	Vaak (30–79%)
Periorbital edema	Vaak (30–79%)
Recurrent colds	Vaak (30–79%)
Abnormal color of the oral mucosa	Soms (5–29%)
Abnormality of salivation	Soms (5–29%)
Abnormality of the eyelid	Soms (5–29%)
Everted eyelid	Soms (5–29%)
Inflammation of the lips	Soms (5–29%)
Mouth sore	Soms (5–29%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Lung infiltrates	Heel vaak (80–99%)
Chronic pulmonary obstruction	Vaak (30–79%)
Cough	Vaak (30–79%)
Coughing up blood	Vaak (30–79%)
Pulmonary scarring	Vaak (30–79%)
Respiratory function loss	Vaak (30–79%)
Abnormal pleura morphology	Soms (5–29%)
Inflammation of tissues lining lungs and chest	Soms (5–29%)
Permanent enlargement of the airways of the lungs	Soms (5–29%)
Spot on the lung	Soms (5–29%)
Stiff lung or chest wall causing decreased lung volume	Soms (5–29%)
Subglottic stenosis	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Anorexia	Heel vaak (80–99%)
Abdominal pain	Vaak (30–79%)
Diarrhea	Vaak (30–79%)
Enlarged liver	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Atrophic gastritis	Soms (5–29%)
Crohn's disease	Soms (5–29%)
Inflammation of the large intestine	Soms (5–29%)
Intestinal obstruction	Soms (5–29%)
Lymphocytic infiltration of the colorectal mucosa	Soms (5–29%)
Pancreatic inflammation	Soms (5–29%)

Abnormality of the cardiovascular system

Trait	Hoe vaak het voorkomt
Disruption of blood oxygen supply to brain	Heel vaak (80–99%)
Inflammation of blood vessel	Heel vaak (80–99%)
Redness of skin or mucous membrane	Heel vaak (80–99%)
Swollen lymph nodes	Heel vaak (80–99%)
High blood pressure	Vaak (30–79%)
Increased spleen size	Vaak (30–79%)
Raynaud phenomenon	Vaak (30–79%)
Abnormal heart rate	Soms (5–29%)
Angina pectoris	Soms (5–29%)
Swelling or irritation of membrane around heart	Soms (5–29%)

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Peripheral neuropathy	Vaak (30–79%)
Cranial nerve paralysis	Soms (5–29%)
Damage to nerves that sense feeling	Soms (5–29%)
Depression	Soms (5–29%)
Epilepsy	Soms (5–29%)
Headache	Soms (5–29%)
Paralysis on one side of body	Soms (5–29%)
Tremor	Soms (5–29%)
Chorea	Zelden (1–4%)
Grand mal seizures	Zelden (1–4%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Blood in urine	Heel vaak (80–99%)
Fever	Heel vaak (80–99%)
High urine protein levels	Heel vaak (80–99%)
Elevated circulating C-reactive protein concentration	Vaak (30–79%)
High ESR	Vaak (30–79%)
High urine neutrophil count	Vaak (30–79%)
Fluid around lungs	Soms (5–29%)
Fluid retention	Soms (5–29%)
Hypothermia	Soms (5–29%)
Type 1 diabetes	Soms (5–29%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Fatigue	Heel vaak (80–99%)
Joint pain	Heel vaak (80–99%)
Malaise	Heel vaak (80–99%)
Chest pain	Vaak (30–79%)
Chills	Soms (5–29%)
Death of body tissue due to lack of blood flow or infection	Soms (5–29%)
Muscle ache	Soms (5–29%)
Shivering	Soms (5–29%)
Night sweats	Zelden (1–4%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Inflammation of the outer white part of the eye	Vaak (30–79%)
Inflammatory abnormality of the eye	Vaak (30–79%)
Bulging eye	Soms (5–29%)
Corneal inflammation	Soms (5–29%)
Noninflammatory retina disease	Soms (5–29%)
Visual impairment	Soms (5–29%)
Optic neuritis	Zelden (1–4%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Glomerulopathy	Heel vaak (80–99%)
Glomerulonephritis	Vaak (30–79%)
Lupus nephritis	Vaak (30–79%)
Hydronephrosis	Soms (5–29%)
Inflammation of the prostate	Soms (5–29%)
Narrowing of the ureter	Soms (5–29%)
Renal failure	Soms (5–29%)

Abnormal cellular phenotype

Trait	Hoe vaak het voorkomt
Decreased circulating antibody level	Heel vaak (80–99%)
Decreased circulating IgA concentration	Vaak (30–79%)
Decreased circulating IgG concentration	Vaak (30–79%)
Decreased circulating IgM concentration	Vaak (30–79%)
Abnormal circulating immunoglobulin concentration	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Middle ear infection	Heel vaak (80–99%)
Chronic infections of the middle ear	Soms (5–29%)
Sensorineural hearing impairment	Soms (5–29%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Abnormality of the hypothalamus-pituitary axis	Vaak (30–79%)
Diabetes insipidus	Soms (5–29%)
Thyroid gland inflammation	Soms (5–29%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Arthritis	Vaak (30–79%)
Polyarticular arthritis	Vaak (30–79%)
Muscle degeneration	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Weight loss	Heel vaak (80–99%)
Growth delay	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Thickening of palms and soles	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CTLA4 and how often each is seen. Find out more at hpo.jax.org.

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