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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\u2013Costa syndrome (OMIM 607944). Hence a diagnosis of Roifman\u2013Costa syndrome was made. Ours shall be the first report of such a condition from the Indian subcontinent and hence the communication. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31526","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T04:34:16Z","timestamp":1165984456000},"page":"69-75","source":"Crossref","is-referenced-by-count":23,"title":["A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia"],"prefix":"10.1002","volume":"143A","author":[{"given":"M.L.","family":"Kulkarni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kannan","family":"Baskar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Preethi M.","family":"Kulkarni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.12.1422"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610210.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570422"},{"key":"e_1_2_5_5_1","first-page":"373","article-title":"Humoral immunodeficiency in recurrent upper respiratory tract infections. 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