Short-limb skeletal dysplasia with severe combined immunodeficiency (Q97566)
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Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_469016488 |
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| English | Short-limb skeletal dysplasia with severe combined immunodeficiency |
Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterised 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. |
