Leukocyte adhesion deficiency
ORPHA:2968DiseaseAutosomal recessiveChildhood, Infancy
Фенотипы (HPO)52
Очень частый (80–99%)3
HP:0002718Recurrent bacterial infections
HP:0011990Abnormality of neutrophil physiology
HP:0040238Impaired neutrophil chemotaxis
Частый (30–79%)16
HP:0005528Bone marrow hypocellularity
HP:0006527Lymphoid interstitial pneumonia
HP:0007499Recurrent staphylococcal infections
HP:0009098Chronic oral candidiasis
HP:0011107Recurrent aphthous stomatitis
HP:0011947Respiratory tract infection
HP:0032434Delayed umbilical cord separation
HP:0032435Neonatal omphalitis
HP:0000010Recurrent urinary tract infections
HP:0000230Gingivitis
HP:0000388Otitis media
HP:0001581Recurrent skin infections
HP:0001974Leukocytosis
HP:0002090Pneumonia
HP:0002586Peritonitis
HP:0002841Recurrent fungal infections
Периодический (5–29%)29
HP:0000099Glomerulonephritis
HP:0000164Abnormality of the dentition
HP:0000166Severe periodontitis
HP:0000246Sinusitis
HP:0000280Coarse facial features
HP:0000509Conjunctivitis
HP:0000717Autism
HP:0000825Hyperinsulinemic hypoglycemia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001287Meningitis
HP:0001510Growth delay
HP:0001892Abnormal bleeding
HP:0001894Thrombocytosis
HP:0001901Polycythemia
HP:0002059Cerebral atrophy
HP:0002110Bronchiectasis
HP:0002754Osteomyelitis
HP:0003540Impaired platelet aggregation
HP:0004322Short stature
HP:0005575Hemolytic-uremic syndrome
HP:0008404Nail dystrophy
HP:0009789Perianal abscess
HP:0011110Recurrent tonsillitis
HP:0020087BCGosis
HP:0025452Pyoderma gangrenosum
HP:0030683Vaginitis
HP:0100806Sepsis
HP:0500035Nasolacrimal sac granuloma
Очень редкий (1–4%)4
HP:0000252Microcephaly
HP:0001511Intrauterine growth retardation
HP:0004440Coronal craniosynostosis
HP:0004808Acute myeloid leukemia
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 350 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Latin America | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)