Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of 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.
Comprehensive, easy-to-understand information about this condition
Checking for content...
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
MONDO:0007064
combined immunodeficiency with skin granulomas
MONDO:0009306
reticular dysgenesis
MONDO:0009973
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
MONDO:0011086
severe combined immunodeficiency due to DCLRE1C deficiency
MONDO:0011225
Omenn syndrome
MONDO:0011338