Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function.

Abstract

Vitamin B(12) deficiency is a well-known cause of recurrent aphthous stomatitis (RAS). However, the mechanism by which this deficiency causes the stomatitis is not well understood. Imerslund-Grasbeck syndrome (IGS) causes vitamin B(12) deficiency and proteinuria due to a defect in the vitamin B(12) receptor. We sought to determine whether the RAS observed in IGS patients is associated with neutrophil dysfunction. We report 3 infants with vitamin B(12) deficiency due to IGS, who presented with borderline or normal hemoglobin concentrations, RAS, and a neutrophil function defect. All 3 patients were homozygous for a splice site mutation affecting exon 4 of the AMN gene. A direct correlation was observed between low serum vitamin B12 levels and defective neutrophil function (low chemotaxis and elevated superoxide production) in the patients. Vitamin B(12) therapy led to an immediate resolution of aphthous stomatitis and full correction of neutrophil function. We demonstrated that serum vitamin B(12) deficiency is associated with a neutrophil chemotactic defect and RAS in IGS patients. We suggest that the RAS observed in these patients is due to this defect.

• Authors: Arnon Broides, Baruch Yerushalmi, Rachel Levy, Nurit Hadad, Norma Kaplun, Stephan M Tanner, Allbert de la Chapelle, Jacov Levy
• Journal: Journal of pediatric hematology/oncology (J Pediatr Hematol Oncol) Vol. 28 Issue 11 Pg. 715-9 (Nov 2006) ISSN: 1077-4114 [Print] United States
• PMID: 17114957 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural)

Chemical References

• AMN protein, human
• Membrane Proteins
• Proteins
• Superoxides
• Vitamin B 12

Topics

• Anemia, Megaloblastic (complications)
• Chemotaxis
• Consanguinity
• Diseases in Twins (diagnosis)
• Female
• Humans
• Infant
• Leukocyte Disorders (complications)
• Male
• Membrane Proteins
• Mutation
• Neutrophils (physiology)
• Proteins (genetics)
• Stomatitis, Aphthous (complications, drug therapy)
• Superoxides (metabolism)
• Syndrome
• Vitamin B 12 (therapeutic use)
• Vitamin B Deficiency (complications, genetics)