RGD Reference Report - Defective interferon-gamma production in ataxia-telangiectasia. - Rat Genome Database

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Defective interferon-gamma production in ataxia-telangiectasia.

Authors: Paganelli, R  Capobianchi, MR  Matricardi, PM  Cioe, L  Seminara, R  Dianzani, F  Aiuti, F 
Citation: Paganelli R, etal., Clin Immunol Immunopathol. 1984 Sep;32(3):387-91.
RGD ID: 8693328
Pubmed: PMID:6432389   (View Abstract at PubMed)

The in vitro production of interferon-alpha and -gamma (IFN) by peripheral blood mononuclear cells from four patients with ataxia-telangiectasia was compared to that of healthy controls. Normal values of IFN-alpha were obtained in all cases. However, patients with ataxia-telangiectasia showed a great reduction or absence of IFN-gamma production after induction with either staphylococcal enterotoxin B or galactose oxidase. This defect was accompanied by the absence of secretion of another lymphokine, namely, interleukin 2 (IL-2), in one case. Lymphoproliferative response to phytohemagglutinin (PHA) was severely depressed in all patients. Near normal values of T lymphocytes were found, but the ratio of OKT4+/OKT8+ subsets was reduced in most patients, due to a decrease of OKT4+ lymphocytes. Deficiency of IFN-gamma may contribute to the abnormalities of immune functions and immunoregulation observed in ataxia-telangiectasia, and it may represent an additional cause of the high incidence of viral infections and neoplasia in this disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
ataxia telangiectasia  IDA 8693328; 8693328 RGD 
ataxia telangiectasia  ISOIFNG (Homo sapiens)8693328; 8693328 RGD 
ataxia telangiectasia  ISOIL2 (Homo sapiens)8693328; 8693328 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ifng  (interferon gamma)
Il2  (interleukin 2)

Genes (Mus musculus)
Ifng  (interferon gamma)
Il2  (interleukin 2)

Genes (Homo sapiens)
IFNG  (interferon gamma)
IL2  (interleukin 2)


Additional Information