Комбінований імунодефіцит, зумовлений дефіцитом Моезину
ORPHA:504530· ICD-10 D81.8· Combined immunodeficiency due to Moesin deficiency
Визначення(English summary)
A rare combined T and B cell immunodeficiency characterized by childhood onset of recurrent bacterial and varicella zoster virus infections. Eczema and recurrent molluscum have also been reported. Laboratory studies reveal profound and persistent lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, and fluctuating neutropenia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Childhood