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A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia
Author(s) -
Kulkarni M.L.,
Baskar Kannan,
Kulkarni Preethi M.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31526
Subject(s) - autoimmunity , immunology , medicine , juvenile rheumatoid arthritis , immunodeficiency , immune system , arthritis
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. © 2006 Wiley‐Liss, Inc.