Person: Walter, Jolan E.
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Walter
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Jolan E.
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Walter, Jolan E.
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Publication PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity(BioMed Central, 2014) Belot, Alexandre; Mathieu, Anne-Laure; Veronese, Estelle; Rice, Gillian; Fouyssac, Fanny; Bertrand, Yves; Picard, Capucine; Walter, Jolan E.; Notarangelo, Luigi; Schuetz, Catharina; Reumaux, Heloise; Van Der Burg, Mirjam; Kemp, Helen; Rouvet, Isabelle; Malcus, Christophe; Fabien, Nicole; Crow, Yanick; Menetrier-Caux, Christine; De Villartay, Jean-Pierre; Walzer, ThierryPublication Bilateral Lung Transplantation in a Patient with Humoral Immune Deficiency: A Case Report with Review of the Literature(Hindawi Publishing Corporation, 2014) Farmer, Jocelyn; Sokol, Caroline; Bonilla, Francisco; Murali, Mandakolathur; Kradin, Richard; Astor, Todd; Walter, Jolan E.Humoral immune deficiencies have been associated with noninfectious disease complications including autoimmune cytopenias and pulmonary disease. Herein we present a patient who underwent splenectomy for autoimmune cytopenias and subsequently was diagnosed with humoral immune deficiency in the context of recurrent infections. Immunoglobulin analysis prior to initiation of intravenous immunoglobulin (IVIG) therapy was notable for low age-matched serum levels of IgA (11 mg/dL), IgG2 (14 mg/L), and IgG4 (5 mg/L) with a preserved total level of IgG. Flow cytometry was remarkable for B cell maturation arrest at the IgM+/IgD+ stage. Selective screening for known primary immune deficiency-causing genetic defects was negative. The disease course was uniquely complicated by the development of pulmonary arteriovenous malformations (AVMs), ultimately requiring bilateral lung transplantation in 2012. This is a patient with humoral immune deficiency that became apparent only after splenectomy, which argues for routine immunologic evaluation prior to vaccination and splenectomy. Lung transplantation is a rare therapeutic endpoint and to our knowledge has never before been described in a patient with humoral immune deficiency for the indication of pulmonary AVMs.