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J Inherit Metab Dis (2006) 29:592 DOI 10.



Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia)
C. Blank L. A. Smith D. A. Hammer M. Fehrenbach H. M. DeLisser E. Perez K. E. Sullivan

Received: 5 November 2005 / Accepted: 24 May 2006 / Published online: 6 July 2006 C SSIEM and Springer 2006 Online citation: JIMD Short Report #012 (2006) Online

Summary Congenital disorder of glycosylation Ia is the most common defect of glycosylation and is due to mutations in phosphomannomutase 2. This leads to aberrant N-linked oligosaccharides. The phenotype of CDG Ia reects the essential nature of glycosylation and patients typically present with multiple organs affected, with hypotonia, developmental delay, inverted nipples and abnormal fat pads. Later features include retinitis pigmentosa, stroke, cerebellar atrophy and malabsorption. Approximately 20% of patients die in the rst year of life and infection is the most common cause of death. Immunological function has not previously been investigated in these patients and the critical role of oligosaccharides on adhesion molecules suggested
Communicating editor: Jaak Jaeken C. Blank Gettysburg Pediatrics, Gettysburg, Pennsylvania, USA L. A. Smith Department of Chemical and Biomolecular Engineering, University of Pennsylvania, Pennsylvania, USA D. A. Hammer Department of Bioengineering, University of Pennsylvania, Pennsylvania, USA M. Fehrenbach H. M. DeLisser Pulmonary, Allergy and Critical Care Division, Department of Medicine, University of Pennsylvania School of Medicine, Pennsylvania, USA E. Perez K. E. Sullivan ( ) Department of Pediatrics, Childrens Hospital of Philadelphia, Pennsylvania, USA e-mail: Electronic Supplementary Material Supplementary material is available for this article at

that haematopoietic cell migration and communication could be disrupted by mutations in phosphomannomutase 2. We characterized the clinical features, performed standard immunological evaluations, and performed specic analyses of neutrophil adhesion molecules on two patients to address this question. Patient neutrophils had diminished chemotaxis but expressed comparable levels of adhesion molecules and rolled on articial endothelium equivalently to control neutrophils. The most signicant feature of the patients immunological function was poor vaccine responses. These two affected patients were begun on intravenous immunoglobulin with some improvement in their infections.