Дисплазія скелету з вкороченням кінцівок та важким комбінованим імунодефіцитом

Визначення(English summary)

An extremely rare type of severe combined immunodeficiency (SCID) characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity.