immunodeficiency, autoimmunity and spondylometaphyseal dysplasia
References
Kulkarni ML, Baskar K, Kulkarni PM. A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia. Am J Med Genet A. 2007 Jan 1;143(1):69-75. PMID: 17163538
Roifman CM, Melamed I. A novel syndrome of combined immunodeficiency, autoimmunity and spondylometaphyseal dysplasia. Clin Genet. 2003 Jun;63(6):522-9. PMID: 12786759