Partial recessive IFN-gamma R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

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dc.contributor.authorSologuren, Ithaisa
dc.contributor.authorBoisson Dupuis, Stephanie
dc.contributor.authorPestano, Jose
dc.contributor.authorVincent, Quentin Benoit
dc.contributor.authorFernandez Perez, Leandro
dc.contributor.authorChapgier, Ariane
dc.contributor.authorCardenes, Maria
dc.contributor.authorFeinberg, Jacqueline
dc.contributor.authorIsabel Garcia Laorden, M.
dc.contributor.authorPicard, Capucine
dc.contributor.authorSantiago, Esther
dc.contributor.authorKong, Xiaofei
dc.contributor.authorJanniere, Lucile
dc.contributor.authorColino, Elena
dc.contributor.authorHerrera Ramos, Estefania
dc.contributor.authorFrances, Adela
dc.contributor.authorNavarrete, Carmen
dc.contributor.authorBlanche, Stephane
dc.contributor.authorFaria, Emilia
dc.contributor.authorRemiszewski, Pawel
dc.contributor.authorCordeiro, Ana
dc.contributor.authorFreeman, Alexandra
dc.contributor.authorHolland, Steven
dc.contributor.authorAbarca, Katia
dc.contributor.authorValeron Lemaur, Monica
dc.contributor.authorGoncalo Marques, Jose
dc.contributor.authorSilveira, Luisa
dc.contributor.authorManuel Garcia Castellano, Jose
dc.contributor.authorCaminero, Jose
dc.contributor.authorLuis Perez Arellano, Jose
dc.contributor.authorBustamante, Jacinta
dc.contributor.authorAbel, Laurent
dc.contributor.authorCasanova, Jean Laurent
dc.contributor.authorRodriguez Gallego, Carlos
dc.date.accessioned2024-01-10T12:41:15Z
dc.date.available2024-01-10T12:41:15Z
dc.date.issued2011
dc.description.abstractWe report a series of 14 patients from 11 kindreds with recessive partial (RP)- interferon (IFN)-gamma R1 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-gamma R1 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-gamma R1 deficiency is, thus, more common than initially thought and should be considered in both children and adults with mild or severe mycobacterial diseases.
dc.description.funderInstitute of Health Carlos III, Ministry of Health
dc.description.funderFundacion Canaria de Investigacion y Salud (Canarian Government)
dc.description.funderFoundation Caja Rural de Canarias-Chil y Naranjo 2004
dc.description.funderCanarian Institute for Cancer Research
dc.description.funderProyecto Biorregion 2006
dc.description.funderUniversidad de Las Palmas de Gran Canaria
dc.description.funderNATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES
dc.fechaingreso.objetodigital2024-04-30
dc.format.extent15 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1093/hmg/ddr029
dc.identifier.eissn1460-2083
dc.identifier.issn0964-6906
dc.identifier.pubmedidMEDLINE:21266457
dc.identifier.urihttps://doi.org/10.1093/hmg/ddr029
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/77397
dc.identifier.wosidWOS:000288800500005
dc.information.autorucMedicina;Abarca K ;S/I;70281
dc.issue.numero8
dc.language.isoen
dc.nota.accesocontenido parcial
dc.pagina.final1523
dc.pagina.inicio1509
dc.publisherOXFORD UNIV PRESS
dc.revistaHUMAN MOLECULAR GENETICS
dc.rightsacceso restringido
dc.subjectSTEM-CELL TRANSPLANTATION
dc.subjectGAMMA-MEDIATED IMMUNITY
dc.subjectBACILLE CALMETTE-GUERIN
dc.subjectINTERFERON-GAMMA
dc.subjectIFN-GAMMA
dc.subjectCRYPTOSPORIDIUM-PARVUM
dc.subjectCRYSTAL-STRUCTURE
dc.subjectSTAT1 DEFICIENCY
dc.subjectINFECTION
dc.subjectMUTATION
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePartial recessive IFN-gamma R1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
dc.typeartículo
dc.volumen20
sipa.codpersvinculados70281
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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