A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].
Renella
Raffaele
R
Superti-Furga
Andrea
A
D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology