title: A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.
abstract: We treated a 5-year-old boy, in our hospital in south India, who had a history of recurrent respiratory infections, tuberculosis, and severe varicella infection. He was short in build and a radiological examination revealed evidence of spondylometaphyseal dysplasia. Investigation of the immune system was suggestive of compromised cellular immunity. Immunofluorescence and immunoblot assay for antibodies detected underlying multiple disorders such as systemic lupus erythematosus (SLE), autoimmune thrombocytopenia, and juvenile rheumatoid arthritis (JRA). Roifman et al. described a similar syndrome in 2000 and 2003, which was characterized by spondylometaphyseal dyplasia, combined immunodeficiency, and autoimmunity and called it Roifman-Costa syndrome (OMIM 607944). Hence a diagnosis of Roifman-Costa syndrome was made. Ours shall be the first report of such a condition from the Indian subcontinent and hence the communication.
authors.affiliation: Department of Pediatrics, JJMMC, Davangere, Karnataka, India. kans345@hotmail.com
authors.forename: M L
authors.initials: ML
authors.lastname: Kulkarni
authors.forename: Kannan
authors.initials: K
authors.lastname: Baskar
authors.forename: Preethi M
authors.initials: PM
authors.lastname: Kulkarni
mesh_terms: D001327:Autoimmune Diseases / Q000175:diagnosis* / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome