Tunnused

Geeniga RAG2 seotud tunnused

recombination activating 2

Inimese fenotüübi ontoloogia seostab geeniga RAG2 116 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Complete or near-complete absence of specific antibody response to tetanus vaccine	Alati
Congenital exfoliative erythroderma	Alati
Decreased circulating isohemagglutinin concentration	Alati
Decreased immune function	Alati
Eczema	Alati
Eosinophilic dermal infiltration	Alati
Infection in blood stream	Alati
Meningitis	Alati
Pimple	Alati
Pneumonia	Alati
Recurrent bacterial infections	Alati
Recurrent skin infections	Alati
Recurrent viral infections	Alati
Skin rash	Alati
Subcutaneous abscess	Alati
Red scaly skin caused by inflammatory skin disease	Väga sageli (80–99%)
Severe combined immunodeficiency	Väga sageli (80–99%)
Recurrent enteroviral infections	Sageli (30–79%)
Recurrent fungal infections	Sageli (30–79%)
Autoimmunity	Mõnikord (5–29%)
Combined immunodeficiency	Pole registreeritud
Recurrent opportunistic infections	Pole registreeritud
Recurrent respiratory infections	Pole registreeritud
Severe T-cell immunodeficiency	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Absent circulating B cells	Alati
Absent circulating T cells	Alati
Absent natural killer cells	Alati
Decreased naive CD4+ T cell proportion	Alati
Decreased total CD8+ T cell proportion	Alati
Elevated white blood count	Alati
High blood eosinophil count	Alati
Increased CD4:CD8 ratio	Alati
Low B cell count	Alati
Low blood neutrophil count	Alati
Low number of red blood cells or hemoglobin	Alati
Oligoclonal T cell expansion	Alati
Abnormal lymphocyte morphology	Väga sageli (80–99%)
Abnormal total B cell count	Väga sageli (80–99%)
Abnormal total T cell number	Väga sageli (80–99%)
Decreased blood lymphocyte number	Sageli (30–79%)
High lymphocyte count	Sageli (30–79%)
Low T cell count	Sageli (30–79%)
Abnormal total natural killer cell count	Mõnikord (5–29%)
Autoimmune hemolytic anemia	Mõnikord (5–29%)
Cancer of lymphatic system	Mõnikord (5–29%)
Low platelet count	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Brittle hair	Alati
Hair loss	Alati
Hyperkeratosis	Alati
Parakeratosis	Alati
Psoriasiform acanthosis	Alati
Scaling skin	Alati
Sparse hair	Alati
Spongiosis	Alati
Dry skin	Sageli (30–79%)
Itching	Sageli (30–79%)
Thickened skin	Sageli (30–79%)
Paleness	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Agammaglobulinemia	Alati
Decreased anti-CD3/28-induced T-cell proliferation	Alati
Decreased circulating IgA concentration	Alati
Decreased circulating IgG concentration	Alati
Impaired phytohemagglutinin-induced T lymphocyte transformation	Alati
Increased circulating IgE concentration	Alati
Decreased circulating antibody level	Väga sageli (80–99%)
Decreased circulating IgM concentration	Väga sageli (80–99%)
Decreased antigen-specific T cell proliferation	Sageli (30–79%)
Decreased mitogen-induced T-cell proliferation	Sageli (30–79%)
Panhypogammaglobulinemia	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Absent thymus	Alati
Axillary lymphadenopathy	Alati
Generalized swelling of lymph nodes	Alati
Inguinal lymphadenopathy	Alati
Redness of skin or mucous membrane	Alati
Swollen lymph nodes in the neck	Alati
Swollen lymph nodes	Väga sageli (80–99%)
Enlarged liver and spleen	Sageli (30–79%)
Increased spleen size	Sageli (30–79%)
Inflammation of the lymph nodes	Mõnikord (5–29%)
Small thymus	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Absence of scalp hair	Alati
Absent eyebrow	Alati
Absent eyelashes	Alati
Chronic oral thrush	Alati
Recurrent upper and lower respiratory tract infections	Sageli (30–79%)
Sparse or absent eyebrows	Sageli (30–79%)
Mastoiditis	Pole registreeritud
Pink eye	Pole registreeritud
Purulent rhinitis	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Bacteremia	Alati
Elevated circulating C-reactive protein concentration	Alati
Episodic fever	Alati
Fluid retention	Alati
Low albumin	Alati
Persistent fever	Alati
Fever	Sageli (30–79%)
High liver enzymes	Mõnikord (5–29%)
Decreased protein levels in blood	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Intractable diarrhea	Alati
Protracted diarrhea	Alati
Chronic diarrhea	Väga sageli (80–99%)
Enlarged liver	Väga sageli (80–99%)
Diarrhea	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormality of the wide portion of a long bone	Mõnikord (5–29%)
Short toe	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Thyroid gland inflammation	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
CSF pleocytosis	Alati
Epilepsy	Alati

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Alati
Faltering weight secondary to recurrent infections	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Desquamation of skin soon after birth	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Middle ear infection	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Nephrotic syndrome	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Arthritis	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Lung infiltrates	Alati

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga RAG2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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