Autoimmune lymphoproliferative syndrome
ORPHA:3261DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CASP10 | caspase 10 | Disease-causing germline mutation(s) in | gene with protein product | 601762 |
| FAS | Fas cell surface death receptor | Disease-causing germline mutation(s) in | gene with protein product | 134637 |
| FAS | Fas cell surface death receptor | Disease-causing somatic mutation(s) in | gene with protein product | 134637 |
| FASLG | Fas ligand | Disease-causing germline mutation(s) in | gene with protein product | 134638 |
Фенотипы (HPO)72
Очень частый (80–99%)4
HP:0001744Splenomegaly
HP:0002716Lymphadenopathy
HP:0002730Chronic noninfectious lymphadenopathy
HP:0002960Autoimmunity
Частый (30–79%)14
HP:0000978Bruising susceptibility
HP:0001890Autoimmune hemolytic anemia
HP:0001892Abnormal bleeding
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001971Hypersplenism
HP:0001973Autoimmune thrombocytopenia
HP:0002240Hepatomegaly
HP:0002851Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
HP:0003237Increased circulating IgG level
HP:0005404Increased B cell count
HP:0010702Increased circulating antibody level
HP:0030886Abnormal lymphocyte apoptosis
HP:0033199Increased circulating interleukin 10 concentration
HP:0011117Abnormal circulating interleukin concentration
Периодический (5–29%)31
HP:0000099Glomerulonephritis
HP:0001025Urticaria
HP:0001880Eosinophilia
HP:0001888Lymphopenia
HP:0001923Reticulocytosis
HP:0002633Vasculitis
HP:0002848Specific anti-polysaccharide antibody deficiency
HP:0002850Decreased circulating total IgM
HP:0002923Rheumatoid factor positive
HP:0003212Increased circulating IgE level
HP:0003261Increased circulating IgA level
HP:0003453Antineutrophil antibody positivity
HP:0003493Antinuclear antibody positivity
HP:0003613Antiphospholipid antibody positivity
HP:0004315Decreased circulating IgG level
HP:0004844Coombs-positive hemolytic anemia
HP:0012115Hepatitis
HP:0012189Hodgkin lymphoma
HP:0012190T-cell lymphoma
HP:0012191B-cell lymphoma
HP:0012539Non-Hodgkin lymphoma
HP:0030080Burkitt lymphoma
HP:0031392Abnormal proportion of CD4 T cells
HP:0031393Abnormal proportion of CD8 T cells
HP:0034447Increased circulating interleukin 18 concentration
HP:0040126Abnormal vitamin B12 level
HP:0100646Thyroiditis
HP:0100827Lymphocytosis
HP:6000016Elevated circulating vitamin B12 concentration
HP:6000017Elevated circulating soluble FASL concentration
HP:0032218Decreased proportion of CD4-positive T cells
Очень редкий (1–4%)23
HP:0000083Renal insufficiency
HP:0000554Uveitis
HP:0000854Thyroid adenoma
HP:0001250Seizure
HP:0001369Arthritis
HP:0001402Hepatocellular carcinoma
HP:0001789Hydrops fetalis
HP:0002113Pulmonary infiltrates
HP:0002206Pulmonary fibrosis
HP:0002315Headache
HP:0002583Colitis
HP:0002671Basal cell carcinoma
HP:0002725Systemic lupus erythematosus
HP:0002890Thyroid carcinoma
HP:0005263Gastritis
HP:0005528Bone marrow hypocellularity
HP:0008069Neoplasm of the skin
HP:0008209Premature ovarian insufficiency
HP:0010619Fibroadenoma of the breast
HP:0011107Recurrent aphthous stomatitis
HP:0012490Panniculitis
HP:0031020Bone marrow hypercellularity
HP:0100648Neoplasm of the tongue
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 500 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)