Article
Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome.
The Journal of allergy and clinical immunology - 1 Sept 2012
Cliffe Simon T, Bloch Donald B, Suryani Santi, Kamsteeg Erik-Jan, Avery Danielle T, Palendira Umaimainthan, Church Joseph A, Wainstein Brynn K, Trizzino Antonino, Lefranc Gérard, Akatcherian Carlo, Megarbané André, Gilissen Christian, Moshous Despina, Reichenbach Janine, Misbah Siraj, Salzer Uli, Abinun Mario, Ong Peck Y, Stepensky Polina, Ruga Ezia, Ziegler John B, Wong Melanie, Tangye Stuart G, Lindeman Robert, Buckley Michael F, Roscioli Tony
Abstract excerpt
BACKGROUND: Mutations in the SP110 gene result in infantile onset of the autosomal recessive primary immunodeficiency disease veno-occlusive disease with immunodeficiency syndrome (VODI), which is characterized by hypogammaglobulinemia, T-cell dysfunction, and a high frequency of hepatic veno-occlusive disease. OBJECTIVES: We sought to further characterize the clinical features, B-lineage cellular immunologic...
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