Т-В+ тяжкий комбінований імунодефіцит, зумовлений дефіцитом CD45
ORPHA:169157· ICD-10 D81.2· T-B+ severe combined immunodeficiency due to CD45 deficiency
Визначення(English summary)
A rare T-B+ severe combined immunodeficiency characterized by markedly decreased numbers of T-cells and normal or increased numbers of B-cells and natural killer (NK) cells. Hypogammaglobulinemia has also been reported. Patients generally present in infancy with recurrent infections, failure to thrive, rash, fever, hepatosplenomegaly, lymphadenopathy, and pancytopenia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy