RGD Reference Report - FcgammaRIII b and FcgammaRIIa polymorphism may affect the production of specific NA1 autoantibody and clinical course of autoimmune neutropenia of infancy. - Rat Genome Database

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FcgammaRIII b and FcgammaRIIa polymorphism may affect the production of specific NA1 autoantibody and clinical course of autoimmune neutropenia of infancy.

Authors: Taniuchi, S  Masuda, M  Yamamoto, A  Hasui, M  Tsuji, S  Komiyama, Y  Takahashi, H  Kobayashi, Y 
Citation: Taniuchi S, etal., Hum Immunol. 2001 Apr;62(4):408-13.
RGD ID: 11040988
Pubmed: PMID:11295474   (View Abstract at PubMed)

We studied 18 children with autoimmune neutropenia (AIN) to evaluate whether there was a possible relationship between the specificity of granulocyte autoantibodies (anti-NA1,2) and the phenotype of the NA system. Direct granulocyte immunofluorescence test (D-GIFT) was positive in all patients, and indirect granulocyte immunofluorescence test (I-GIFT) was positive in 17 of these 18 patients, respectively. Fourteen of 18 patients showed preferential binding to neutrophils from NA(1+2-) phenotyped donors. Immunoblotting with anti-FcgammaRIIImAb showed that IgG prepared from 7 of 12 patients precipitated both FcgammaRIIIb from NA1 and NA2 neutrophil lysate, whereas the other 5 precipitated only NA1. Patients' IgG did not react with purified FcgammaRIIa. FcgammaRIIIb genotype were NA(1+2-) in 15 of 18 patients and NA(1+2+) in the other 3. FcgammaRIIa type of all patients were (H+R-). These distributions were significantly different from those of healthy Japanese blood donors (n = 608). The genotype of FcgammaRIIIb and FcgammaRIIa may affect the production of neutrophil specific auto-antibodies in AIN of infancy and influence its clinical course.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumanneutropenia  IAGP DNA:SNP:cds:p.R131H (human)RGD 
Fcgr2aRatneutropenia  ISOFCGR2A (Homo sapiens)DNA:SNP:cds:p.R131H (human)RGD 
Fcgr3Mouseneutropenia  ISOFCGR2A (Homo sapiens)DNA:SNP:cds:p.R131H (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumanNeutropenia in presence of anti-neutropil antibodies  IAGP DNA:SNP:cds:p.R131HRGD 
Objects Annotated

Genes (Rattus norvegicus)
Fcgr2a  (Fc gamma receptor 2A)

Genes (Mus musculus)
Fcgr3  (Fc receptor, IgG, low affinity III)

Genes (Homo sapiens)
FCGR2A  (Fc gamma receptor IIa)


Additional Information