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Journal of Inherited Metabolic Disease

, Volume 29, Issue 4, pp 592–592 | Cite as

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
Short Report

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 reflects 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 first 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 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 specific 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 artificial endothelium equivalently to control neutrophils. The most significant 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.

Keywords

Oligosaccharide Developmental Delay Retinitis Pigmentosa Recurrent Infection Cerebellar Atrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

10545_2006_ESM_275.pdf (195 kb)
Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia)

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • C. Blank
    • 1
  • L. A. Smith
    • 2
  • D. A. Hammer
    • 3
  • M. Fehrenbach
    • 4
  • H. M. DeLisser
    • 4
  • E. Perez
    • 5
  • K. E. Sullivan
    • 5
  1. 1.Gettysburg PediatricsGettysburgUSA
  2. 2.Department of Chemical and Biomolecular EngineeringUniversity of PennsylvaniaUSA
  3. 3.Department of BioengineeringUniversity of PennsylvaniaUSA
  4. 4.Pulmonary, Allergy and Critical Care Division, Department of MedicineUniversity of Pennsylvania School of MedicineUSA
  5. 5.Department of PediatricsChildren’s Hospital of PhiladelphiaUSA

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