Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ORPHA:436159DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)1
HP:0004313Decreased circulating antibody level
Частый (30–79%)13
HP:0001047Atopic dermatitis
HP:0001744Splenomegaly
HP:0001890Autoimmune hemolytic anemia
HP:0001973Autoimmune thrombocytopenia
HP:0002014Diarrhea
HP:0002090Pneumonia
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0002720Decreased circulating IgA level
HP:0002783Recurrent lower respiratory tract infections
HP:0002788Recurrent upper respiratory tract infections
HP:0002850Decreased circulating total IgM
HP:0004315Decreased circulating IgG level
Периодический (5–29%)14
HP:0000964Eczematoid dermatitis
HP:0001510Growth delay
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0002037Inflammation of the large intestine
HP:0002110Bronchiectasis
HP:0002582Atrophic gastritis
HP:0002665Lymphoma
HP:0003765Psoriasiform dermatitis
HP:0005401Recurrent candida infections
HP:0032216Lymphocytic infiltration of the colorectal mucosa
HP:0100280Crohn's disease
HP:0100646Thyroiditis
HP:0100651Type I diabetes mellitus
HP:0100806Sepsis
Очень редкий (1–4%)3
HP:0002069Bilateral tonic-clonic seizure
HP:0012410Pure red cell aplasia
HP:0100653Optic neuritis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)