RGD Reference Report - Imerslund-Grasbeck syndrome associated with recurrent aphthous stomatitis and defective neutrophil function. - Rat Genome Database

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

Authors: Broides, A  Yerushalmi, B  Levy, R  Hadad, N  Kaplun, N  Tanner, SM  Chapelle Ade, L  Levy, J 
Citation: Broides A, etal., J Pediatr Hematol Oncol. 2006 Nov;28(11):715-9.
RGD ID: 11071839
Pubmed: PMID:17114957   (View Abstract at PubMed)
DOI: DOI:10.1097/01.mph.0000243656.25938.7b   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
AMNHumanImerslund-Grasbeck Syndrome 2  IAGP DNA:mutation:splice site:RGD 
AmnRatImerslund-Grasbeck Syndrome 2  ISOAMN (Homo sapiens)DNA:mutation:splice site:RGD 
AmnMouseImerslund-Grasbeck Syndrome 2  ISOAMN (Homo sapiens)DNA:mutation:splice site:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Amn  (amnion associated transmembrane protein)

Genes (Mus musculus)
Amn  (amnionless)

Genes (Homo sapiens)
AMN  (amnion associated transmembrane protein)


Additional Information