A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency

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dc.contributor.authorAllende Martínez, Luis Miguel
dc.contributor.authorLópez Goyanes, Alberto
dc.contributor.authorPaz Artal, Estela Natividad
dc.contributor.authorCorell, Alfredo
dc.contributor.authorGarcía Pérez, Miguel Ángel
dc.contributor.authorVarela Peña, Pilar
dc.contributor.authorScarpellini, Atilio
dc.contributor.authorNegreira, Sagrario
dc.contributor.authorPalenque Mataix, Elia
dc.contributor.authorArnaiz Villena, Antonio
dc.date.accessioned2024-02-02T09:07:04Z
dc.date.available2024-02-02T09:07:04Z
dc.date.issued2001-01-01
dc.description.abstractGamma interferon (IFN-γ) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-γ receptor ligand-binding chain (IFN-γR1) deficiency present gross mutations that truncate the protein and prevent its expression, giving rise to severe mycobacterial infections and, frequently, a fatal outcome. In this report a new mutation that affects the IFN-γR1 ligand-binding domain in a Spanish patient with mycobacterial disseminated infection and multifocal osteomyelitis is characterized. The mutation generates an amino acid change that does not abrogate protein expression on the cellular surface but that severely impairs responses after the binding of IFN-γ (CD64 and HLA class II induction and tumor necrosis factor alpha and interleukin-12 production). A patient's younger brother, who was also probably homozygous for the mutation, died from meningitis due to Mycobacterium bovis. These findings suggest that a point mutation may be fatal when it affects functionally important domains of the receptor and that the severity is not directly related to a lack of IFN-γ receptor expression. Future research on these nontruncating mutations will make it possible to develop new therapeutical alternatives in this group of patients.
dc.description.departmentDepto. de Inmunología, Oftalmología y ORL
dc.description.facultyFac. de Medicina
dc.description.refereedTRUE
dc.description.sponsorshipMinisterio de Educación y Ciencia
dc.description.sponsorshipComunidad Autónoma de Madrid
dc.description.statuspub
dc.identifier.citationAllende LM, López-Goyanes A, Paz-Artal E, Corell A, García-Pérez MA, Varela P, Scarpellini A, Negreira S, Palenque E, Arnaiz-Villena A. A point mutation in a domain of gamma interferon receptor 1 provokes severe immunodeficiency. Clin Diagn Lab Immunol. 2001 Jan;8(1):133-7. doi: 10.1128/CDLI.8.1.133-137.2001. PMID: 11139207; PMCID: PMC96022.
dc.identifier.doi10.1128/cdli.8.1.133-137.2001
dc.identifier.issn1098-6588
dc.identifier.officialurlhttps://journals.asm.org/doi/10.1128/cdli.8.1.133-137.2001
dc.identifier.relatedurlhttps://pubmed.ncbi.nlm.nih.gov/11139207/
dc.identifier.urihttps://hdl.handle.net/20.500.14352/98102
dc.issue.number1
dc.journal.titleClinical and Diagnostic Laboratory Immunology
dc.language.isoeng
dc.page.final137
dc.page.initial133
dc.publisherAmerican Society for Microbiology
dc.relation.projectIDPM 95-57
dc.relation.projectID06-70-97
dc.relation.projectID8.3-14-98
dc.rights.accessRightsrestricted access
dc.subject.cdu612.017
dc.subject.ucmCiencias Biomédicas
dc.subject.unesco32 Ciencias Médicas
dc.titleA Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency
dc.typejournal article
dc.type.hasVersionVoR
dc.volume.number8
dspace.entity.typePublication
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