Панцитопенія, зумовлена мутацією IKZF1
ORPHA:317473· ICD-10 D81.8· Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
Визначення(English summary)
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Adult, Childhood, Infancy, Neonatal