Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Traits
Traits linked to IL2RG
interleukin 2 receptor subunit gamma
The Human Phenotype Ontology links 72 traits to IL2RG, by body system: features seen in people with one of the gene's rare conditions.
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the immune system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Combined immunodeficiency | Visada |
| Pneumocystis jirovecii pneumonia | Visada |
| Pneumonia | Labai dažnai (80–99%) |
| Red scaly skin caused by inflammatory skin disease | Labai dažnai (80–99%) |
| Severe combined immunodeficiency | Labai dažnai (80–99%) |
| Infection in blood stream | Dažnai (30–79%) |
| Recurrent bacterial infections | Dažnai (30–79%) |
| Recurrent opportunistic infections | Dažnai (30–79%) |
| Recurrent pneumonia | Dažnai (30–79%) |
| Skin rash | Dažnai (30–79%) |
| Autoimmunity | Kartais (5–29%) |
| Recurrent bacterial skin infections | Kartais (5–29%) |
| Recurrent cutaneous fungal infections | Kartais (5–29%) |
| Recurrent Haemophilus influenzae infection | Kartais (5–29%) |
| Recurrent mucocutaneous candidiasis | Kartais (5–29%) |
| Severe recurrent varicella | Kartais (5–29%) |
| Susceptibility to herpesvirus | Kartais (5–29%) |
| Recurrent bacterial meningitis | Neužfiksuota |
| Recurrent bronchitis | Neužfiksuota |
| Recurrent fungal infections | Neužfiksuota |
| Severe T-cell immunodeficiency | Neužfiksuota |
Abnormality of blood and blood-forming tissues
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal lymphocyte morphology | Labai dažnai (80–99%) |
| Decreased blood lymphocyte number | Labai dažnai (80–99%) |
| Decreased naive T cell proportion | Labai dažnai (80–99%) |
| Decreased total CD4+ T cell proportion | Labai dažnai (80–99%) |
| Reduced total natural killer cell count | Labai dažnai (80–99%) |
| Abnormally low T cell receptor excision circle level | Dažnai (30–79%) |
| Elevated white blood count | Dažnai (30–79%) |
| High blood eosinophil count | Dažnai (30–79%) |
| Low T cell count | Dažnai (30–79%) |
| Cancer of lymphatic system | Kartais (5–29%) |
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
| Lymphoproliferative disorder | Retai (1–4 %) |
| Decreased total CD8+ T cell proportion | Neužfiksuota |
Abnormal cellular phenotype
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormal circulating immunoglobulin concentration | Labai dažnai (80–99%) |
| Decreased mitogen-induced T-cell proliferation | Labai dažnai (80–99%) |
| Decreased circulating IgA concentration | Dažnai (30–79%) |
| Decreased circulating IgG concentration | Dažnai (30–79%) |
| Increased circulating IgG concentration | Retai (1–4 %) |
| Abnormal natural killer cell physiology | Neužfiksuota |
| Agammaglobulinemia | Neužfiksuota |
| Decreased circulating IgE concentration | Neužfiksuota |
| Decreased circulating IgM concentration | Neužfiksuota |
| Impaired phytohemagglutinin-induced T lymphocyte transformation | Neužfiksuota |
Abnormality of the cardiovascular system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Swollen lymph nodes | Labai dažnai (80–99%) |
| Increased spleen size | Dažnai (30–79%) |
| Absent tonsils | Kartais (5–29%) |
| Small lymph nodes | Kartais (5–29%) |
| Small thymus | Neužfiksuota |
Abnormality of the digestive system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Chronic diarrhea | Labai dažnai (80–99%) |
| Enlarged liver | Labai dažnai (80–99%) |
| Diarrhea | Dažnai (30–79%) |
| Jaundice | Retai (1–4 %) |
Abnormality of the integument
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Hair loss | Labai dažnai (80–99%) |
| Dry skin | Dažnai (30–79%) |
| Itching | Dažnai (30–79%) |
| Thickened skin | Dažnai (30–79%) |
Abnormality of head or neck
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Chronic oral thrush | Dažnai (30–79%) |
| Sparse or absent eyebrows | Dažnai (30–79%) |
| Sinus disease | Neužfiksuota |
Laboratory abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Episodic fever | Labai dažnai (80–99%) |
| Fever | Dažnai (30–79%) |
| Fluid retention | Dažnai (30–79%) |
Abnormality of limbs
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the wide portion of a long bone | Kartais (5–29%) |
| Short toe | Kartais (5–29%) |
Abnormality of the endocrine system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Thyroid gland inflammation | Kartais (5–29%) |
| Underactive thyroid | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Desquamation of skin soon after birth | Dažnai (30–79%) |
Abnormality of the ear
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Middle ear infection | Neužfiksuota |
Abnormality of the genitourinary system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Nephrotic syndrome | Kartais (5–29%) |
Abnormality of the respiratory system
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Cough | Dažnai (30–79%) |
Growth abnormality
| Trait | Kaip dažnai pasireiškia |
|---|---|
| Faltering weight | Labai dažnai (80–99%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to IL2RG and how often each is seen. Find out more at hpo.jax.org.
Kam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites