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Дефіцит TCR-альфа-бета-позитивних Т-клітин

ORPHA:397959· ICD-10 D81.8· TCR-alpha-beta-positive T-cell deficiency

Визначення(English summary)

A rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy