WHIM syndrome
ORPHA:51636DiseaseAutosomal dominant, Autosomal recessive, Not applicableAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)5
HP:0001875Decreased total neutrophil count
HP:0001888Lymphopenia
HP:0011992Abnormality of neutrophil morphology
HP:0031020Bone marrow hypercellularity
HP:0031160Myelokathexis
Частый (30–79%)8
HP:0002090Pneumonia
HP:0002718Recurrent bacterial infections
HP:0002788Recurrent upper respiratory tract infections
HP:0004313Decreased circulating antibody level
HP:0006532Recurrent pneumonia
HP:0011947Respiratory tract infection
HP:0012740Papilloma
HP:0200043Verrucae
Периодический (5–29%)11
HP:0000246Sinusitis
HP:0000388Otitis media
HP:0001636Tetralogy of Fallot
HP:0002070Limb ataxia
HP:0002110Bronchiectasis
HP:0002167Abnormality of speech or vocalization
HP:0002172Postural instability
HP:0002244Abnormality of the small intestine
HP:0007010Poor fine motor coordination
HP:0025439Pharyngitis
HP:0030079Cervix cancer
Очень редкий (1–4%)10
HP:0000166Severe periodontitis
HP:0001045Vitiligo
HP:0001250Seizure
HP:0001287Meningitis
HP:0002840Lymphadenitis
HP:0011850Parotitis
HP:0012056Cutaneous melanoma
HP:0100658Cellulitis
HP:0100750Atelectasis
HP:0100806Sepsis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 65 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | <1 / 1 000 000 | 0.023 | France | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)