+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



Journal of Pediatric Hematology/Oncology 28(11): 715-719



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.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 049287157

Download citation: RISBibTeXText

PMID: 17114957

DOI: 10.1097/01.mph.0000243656.25938.7b


Related references

Polymorphonuclear neutrophil function in recurrent aphthous stomatitis. Journal of Dental Research 61(SPEC ISSUE): 347, 1982

Polymorphonuclear neutrophil function in recurrent aphthous stomatitis. Journal of Oral Pathology and Medicine 20(8): 392-394, 1991

The effects of colchicine on neutrophil function in subjects with recurrent aphthous stomatitis. Journal of the European Academy of Dermatology and Venereology 17(4): 469-470, 2003

Ileal function in the imerslund grasbeck syndrome. British Journal of Haematology 52(1): 136, 1982

Lymphocytotoxicity in recurrent aphthous stomatitis. Lymphocytotoxicity for oral epithelial cells in recurrent aphthous stomatitis and Bechet syndrome. Archives of Dermatology 109(3): 361-363, 1974

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome. Bmc Medical Genetics 14: 111, 2013

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Grasbeck syndrome in dogs. 2013

An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. Molecular Genetics and Metabolism 109(4): 390-396, 2013

Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Gräsbeck syndrome. Pediatric Hematology and Oncology 17(4): 331-334, 2000

Plasma neutrophil elastase in children with recurrent aphthous stomatitis. Central European Journal of Immunology 31(1-2): 15-17, 2006

Imerslund-Gräsbeck syndrome. Boletin Medico del Hospital Infantil de Mexico 44(10): 621-626, 1987

Imerslund-Gräsbeck syndrome. Archives de Pediatrie 16(12): 1559-1561, 2009

The imerslund najman grasbeck syndrome. Klinicheskaya Meditsina 65(4): 136-137, 1987

Imerslund-Grasbeck syndrome in a Libyan boy. Annals of Tropical Paediatrics 9(3): 180-181, 1989

Diagnostic Value of Neutrophil-Lymphocyte Ratios and Mean Platelet Volumes in the Activation of Recurrent Aphthous Stomatitis. Indian Journal of Otolaryngology and Head and Neck Surgery 71(1): 120-123, 2019