Immunodeficiency by defective expression of MHC class II
ORPHA:572DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RFX5 | regulatory factor X5 | Disease-causing germline mutation(s) in | gene with protein product | 601863 |
| RFXANK | regulatory factor X associated ankyrin containing protein | Disease-causing germline mutation(s) in | gene with protein product | 603200 |
| RFXAP | regulatory factor X associated protein | Disease-causing germline mutation(s) in | gene with protein product | 601861 |
| CIITA | class II major histocompatibility complex transactivator | Disease-causing germline mutation(s) in | gene with protein product | 600005 |
Фенотипы (HPO)38
Облигатный (100%)1
HP:0031390Reduced MHC II surface expression
Очень частый (80–99%)3
HP:0002205Recurrent respiratory infections
HP:0004798Recurrent infection of the gastrointestinal tract
HP:0005354Lack of T cell function
Частый (30–79%)19
HP:0000246Sinusitis
HP:0001508Failure to thrive
HP:0002014Diarrhea
HP:0002718Recurrent bacterial infections
HP:0002726Recurrent Staphylococcus aureus infections
HP:0002728Chronic mucocutaneous candidiasis
HP:0002841Recurrent fungal infections
HP:0004313Decreased circulating antibody level
HP:0004385Protracted diarrhea
HP:0004429Recurrent viral infections
HP:0005353Recurrent herpes
HP:0005368Abnormality of humoral immunity
HP:0005386Recurrent protozoan infections
HP:0005401Recurrent candida infections
HP:0012384Rhinitis
HP:0025347Decreased circulating beta-2-microglobulin level
HP:0030991Sclerosing cholangitis
HP:0200124Chronic hepatitis due to cryptosporidium infection
HP:0032218Decreased proportion of CD4-positive T cells
Периодический (5–29%)12
HP:0000371Acute otitis media
HP:0000988Skin rash
HP:0001875Decreased total neutrophil count
HP:0001876Pancytopenia
HP:0001890Autoimmune hemolytic anemia
HP:0001904Neutropenia in presence of anti-neutropil antibodies
HP:0001973Autoimmune thrombocytopenia
HP:0002960Autoimmunity
HP:0003139Panhypogammaglobulinemia
HP:0005403Decreased total T cell count
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0031394Abnormal CD4:CD8 ratio
Очень редкий (1–4%)3
HP:0001260Dysarthria
HP:0001999Abnormal facial shape
HP:0002066Gait ataxia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 179 | 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)