Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency
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DOI: 10.1007/s10875-017-0431-5
Abstract: Mutations in Sp110 are the underlying cause of veno-occlusive disease with immunodeficiency (VODI), a combined immunodeficiency that is difficult to treat and often fatal. Because early treatment is critically important for patients with VODI, broadly… read more here.
Keywords: immunodeficiency; disease; disease immunodeficiency; veno occlusive ... See more keywords
Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00715-3
Abstract: To the Editor: Familial veno-occlusive disease with Immunodeficiency (VODI, IUIS, Online Mendelian Inheritance in Man (OMIM) 604457) is an autosomal recessive primary immunodeficiency syndrome due to loss-of-function mutations in the SP110 gene [1]. Typically, patients… read more here.
Keywords: immunodeficiency; disease; missense mutation; cell ... See more keywords