RGD Reference Report - Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds. - Rat Genome Database

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Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.

Authors: Sologuren, I  Boisson-Dupuis, S  Pestano, J  Vincent, QB  Fernandez-Perez, L  Chapgier, A  Cardenes, M  Feinberg, J  Garcia-Laorden, MI  Picard, C  Santiago, E  Kong, X  Janniere, L  Colino, E  Herrera-Ramos, E  Frances, A  Navarrete, C  Blanche, S  Faria, E  Remiszewski, P  Cordeiro, A  Freeman, A  Holland, S  Abarca, K  Valeron-Lemaur, M  Goncalo-Marques, J  Silveira, L  Garcia-Castellano, JM  Caminero, J  Perez-Arellano, JL  Bustamante, J  Abel, L  Casanova, JL  Rodriguez-Gallego, C 
Citation: Sologuren I, etal., Hum Mol Genet. 2011 Apr 15;20(8):1509-23. Epub 2011 Jan 25.
RGD ID: 6480268
Pubmed: PMID:21266457   (View Abstract at PubMed)
PMCID: PMC3115578   (View Article at PubMed Central)
DOI: DOI:10.1093/hmg/ddr029   (Journal Full-text)

We report a series of 14 patients from 11 kindreds with recessive partial (RP)-interferon (IFN)-gammaR1 deficiency. The I87T mutation was found in nine homozygous patients from Chile, Portugal and Poland, and the V63G mutation was found in five homozygous patients from the Canary Islands. Founder effects accounted for the recurrence of both mutations. The most recent common ancestors of the patients with the I87T and V63G mutations probably lived 1600 (875-2950) and 500 (200-1275) years ago, respectively. The two alleles confer phenotypes that are similar but differ in terms of IFN-gammaR1 levels and residual response to IFN-gamma. The patients suffered from bacillus Calmette-Guerin-osis (n= 6), environmental mycobacteriosis (n= 6) or tuberculosis (n= 1). One patient did not suffer from mycobacterial infections but had disseminated salmonellosis, which was also present in two other patients. Age at onset of the first environmental mycobacterial disease differed widely between patients, with a mean value of 11.25 +/- 9.13 years. Thirteen patients survived until the age of 14.82 +/- 11.2 years, and one patient died at the age of 7 years, 9 days after the diagnosis of long-term Mycobacterium avium infection and the initiation of antimycobacterial treatment. Up to 10 patients are currently free of infection with no prophylaxis. The clinical heterogeneity of the 14 patients was not clearly related to either IFNGR1 genotype or the resulting cellular phenotype. RP-IFN-gammaR1 deficiency is, thus, more common than initially thought and should be considered in both children and adults with mild or severe mycobacterial diseases.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IFNGR1HumanMycobacterium Infections  IAGP DNA: missense mutations: cds: I87T and V63GRGD 
Ifngr1RatMycobacterium Infections  ISOIFNGR1 (Homo sapiens)DNA: missense mutations: cds: I87T and V63GRGD 
Ifngr1MouseMycobacterium Infections  ISOIFNGR1 (Homo sapiens)DNA: missense mutations: cds: I87T and V63GRGD 

Objects Annotated

Genes (Rattus norvegicus)
Ifngr1  (interferon gamma receptor 1)

Genes (Mus musculus)
Ifngr1  (interferon gamma receptor 1)

Genes (Homo sapiens)
IFNGR1  (interferon gamma receptor 1)


Additional Information