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

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Abnormal lymphocyte morphology	Meget ofte (80–99 %)
Abnormal T cell morphology	Meget ofte (80–99 %)
Bloody nose	Meget ofte (80–99 %)
Cancer of lymphatic system	Meget ofte (80–99 %)
Cutaneous T-cell lymphoma	Meget ofte (80–99 %)
Decreased blood lymphocyte number	Meget ofte (80–99 %)
Granulomatosis	Meget ofte (80–99 %)
Autoimmune hemolytic anemia	Ofte (30–79 %)
Autoimmune thrombocytopenia	Ofte (30–79 %)
Decreased blood leukocyte number	Ofte (30–79 %)
Increased CD4:CD8 ratio	Ofte (30–79 %)
Recurrent bleeding into lungs	Ofte (30–79 %)
Autoimmune neutropenia	Nogle gange (5–29 %)
Blood clot in vein	Nogle gange (5–29 %)
Blood spots	Nogle gange (5–29 %)
Bone marrow disease	Nogle gange (5–29 %)
Diffuse alveolar hemorrhage	Nogle gange (5–29 %)
Gastrointestinal bleeding	Nogle gange (5–29 %)
Hemolytic anemia	Nogle gange (5–29 %)
Low platelet count	Nogle gange (5–29 %)
Pure red cell aplasia	Sjældent (1–4%)

Abnormality of the integument

Trait	Hvor ofte det ses
Dry skin	Meget ofte (80–99 %)
Itching	Meget ofte (80–99 %)
Lichenification	Meget ofte (80–99 %)
Skin cancer	Meget ofte (80–99 %)
Skin plaque	Meget ofte (80–99 %)
Erythematous macule	Ofte (30–79 %)
Hair loss	Ofte (30–79 %)
Irregular hyperpigmentation	Ofte (30–79 %)
Papule	Ofte (30–79 %)
Patchy loss of skin color	Ofte (30–79 %)
Poikiloderma	Ofte (30–79 %)
Poor nail formation	Ofte (30–79 %)
Abnormality of the nail	Nogle gange (5–29 %)
Diffuse skin atrophy	Nogle gange (5–29 %)
Hyperkeratosis	Nogle gange (5–29 %)
Open skin sore	Nogle gange (5–29 %)
Photosensitive skin	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormality of the nose	Meget ofte (80–99 %)
Abnormality of the oral cavity	Meget ofte (80–99 %)
Sinus disease	Meget ofte (80–99 %)
Blocked tear duct	Ofte (30–79 %)
Periorbital edema	Ofte (30–79 %)
Recurrent colds	Ofte (30–79 %)
Abnormal color of the oral mucosa	Nogle gange (5–29 %)
Abnormality of salivation	Nogle gange (5–29 %)
Abnormality of the eyelid	Nogle gange (5–29 %)
Everted eyelid	Nogle gange (5–29 %)
Inflammation of the lips	Nogle gange (5–29 %)
Mouth sore	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Lung infiltrates	Meget ofte (80–99 %)
Chronic pulmonary obstruction	Ofte (30–79 %)
Cough	Ofte (30–79 %)
Coughing up blood	Ofte (30–79 %)
Pulmonary scarring	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Abnormal pleura morphology	Nogle gange (5–29 %)
Inflammation of tissues lining lungs and chest	Nogle gange (5–29 %)
Permanent enlargement of the airways of the lungs	Nogle gange (5–29 %)
Spot on the lung	Nogle gange (5–29 %)
Stiff lung or chest wall causing decreased lung volume	Nogle gange (5–29 %)
Subglottic stenosis	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Anorexia	Meget ofte (80–99 %)
Abdominal pain	Ofte (30–79 %)
Diarrhea	Ofte (30–79 %)
Enlarged liver	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Atrophic gastritis	Nogle gange (5–29 %)
Crohn's disease	Nogle gange (5–29 %)
Inflammation of the large intestine	Nogle gange (5–29 %)
Intestinal obstruction	Nogle gange (5–29 %)
Lymphocytic infiltration of the colorectal mucosa	Nogle gange (5–29 %)
Pancreatic inflammation	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Disruption of blood oxygen supply to brain	Meget ofte (80–99 %)
Inflammation of blood vessel	Meget ofte (80–99 %)
Redness of skin or mucous membrane	Meget ofte (80–99 %)
Swollen lymph nodes	Meget ofte (80–99 %)
High blood pressure	Ofte (30–79 %)
Increased spleen size	Ofte (30–79 %)
Raynaud phenomenon	Ofte (30–79 %)
Abnormal heart rate	Nogle gange (5–29 %)
Angina pectoris	Nogle gange (5–29 %)
Swelling or irritation of membrane around heart	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Peripheral neuropathy	Ofte (30–79 %)
Cranial nerve paralysis	Nogle gange (5–29 %)
Damage to nerves that sense feeling	Nogle gange (5–29 %)
Depression	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)
Headache	Nogle gange (5–29 %)
Paralysis on one side of body	Nogle gange (5–29 %)
Tremor	Nogle gange (5–29 %)
Chorea	Sjældent (1–4%)
Grand mal seizures	Sjældent (1–4%)

Laboratory abnormality

Trait	Hvor ofte det ses
Blood in urine	Meget ofte (80–99 %)
Fever	Meget ofte (80–99 %)
High urine protein levels	Meget ofte (80–99 %)
Elevated circulating C-reactive protein concentration	Ofte (30–79 %)
High ESR	Ofte (30–79 %)
High urine neutrophil count	Ofte (30–79 %)
Fluid around lungs	Nogle gange (5–29 %)
Fluid retention	Nogle gange (5–29 %)
Hypothermia	Nogle gange (5–29 %)
Type 1 diabetes	Nogle gange (5–29 %)

Constitutional symptom

Trait	Hvor ofte det ses
Fatigue	Meget ofte (80–99 %)
Joint pain	Meget ofte (80–99 %)
Malaise	Meget ofte (80–99 %)
Chest pain	Ofte (30–79 %)
Chills	Nogle gange (5–29 %)
Death of body tissue due to lack of blood flow or infection	Nogle gange (5–29 %)
Muscle ache	Nogle gange (5–29 %)
Shivering	Nogle gange (5–29 %)
Night sweats	Sjældent (1–4%)

Abnormality of the eye

Trait	Hvor ofte det ses
Inflammation of the outer white part of the eye	Ofte (30–79 %)
Inflammatory abnormality of the eye	Ofte (30–79 %)
Bulging eye	Nogle gange (5–29 %)
Corneal inflammation	Nogle gange (5–29 %)
Noninflammatory retina disease	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)
Optic neuritis	Sjældent (1–4%)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Glomerulopathy	Meget ofte (80–99 %)
Glomerulonephritis	Ofte (30–79 %)
Lupus nephritis	Ofte (30–79 %)
Hydronephrosis	Nogle gange (5–29 %)
Inflammation of the prostate	Nogle gange (5–29 %)
Narrowing of the ureter	Nogle gange (5–29 %)
Renal failure	Nogle gange (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Decreased circulating antibody level	Meget ofte (80–99 %)
Decreased circulating IgA concentration	Ofte (30–79 %)
Decreased circulating IgG concentration	Ofte (30–79 %)
Decreased circulating IgM concentration	Ofte (30–79 %)
Abnormal circulating immunoglobulin concentration	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Middle ear infection	Meget ofte (80–99 %)
Chronic infections of the middle ear	Nogle gange (5–29 %)
Sensorineural hearing impairment	Nogle gange (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Abnormality of the hypothalamus-pituitary axis	Ofte (30–79 %)
Diabetes insipidus	Nogle gange (5–29 %)
Thyroid gland inflammation	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Arthritis	Ofte (30–79 %)
Polyarticular arthritis	Ofte (30–79 %)
Muscle degeneration	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Weight loss	Meget ofte (80–99 %)
Growth delay	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Thickening of palms and soles	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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