IL-12R BETA1 DEFICIENCY AND PARACOCCIDIOIDOMYCOSIS: A SECOND CASE REPORT

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMORAES-VASCONCELOS, D.
dc.contributor.authorORII, N. M.
dc.contributor.authorDIAS, A. Santos
dc.contributor.authorBEZERRA, T. Almeida
dc.contributor.authorCAMPEAS, A.
dc.contributor.authorLIAN, Y. C.
dc.contributor.authorBRASIL, R. A.
dc.contributor.groupauthorPediat Infectology Inst
dc.date.accessioned2013-10-11T21:34:13Z
dc.date.available2013-10-11T21:34:13Z
dc.date.issued2012
dc.description.abstractMendelian inheritance to mycobacterial disease (MSMD) refers to a group of diseases characterized by predisposition to clinical disease caused by environmental non-tuberculous or poorly virulent mycobacterial species such as Bacille Calmette-Guérin (BCG) vaccine. Mutations in 6 components of the IFN-gamma/IL-12 axis underlie MSMD: IFNR1,IFNR2,STAT1,IL12B, IL12RB1, IKBKG and IRF8. BMSS, a 11 years old girl, born to a consanguineous couple, presented disseminated BCG infection in infancy. Treatment was instituted during three years. Approximately two months prior to hospitalization the patient traveled to a rural area of Minas Gerais, Brazil. 40 days later she presented painful cervical lymphadenopathy and a lytic lesion in the right tibia. Histopathological findings showed an inflammatory reaction rich in histiocytes resembling granulomas, plenty of fungal structures with multiple gemulations that proved to be Paracoccidioides brasiliensis. At that time she was investigated for a possible primary immunodeficiency, being diagnosed a IL12RB1 deficiency. She was treated with Itraconazole with an adequate response. After nine months she started to present fever, cough and right side pleuritis. BAL showed positive ACB identified by PCR as M. tuberculosis. Lung biopsy showed malformed granulomas again, with ACB. She is nowadays being treated with Rifampin, Isoniazid, Ethambutol, Pyrazinamide and Clarithromycin. We then started IFN-gamma therapy with a quick improvement of the clinical status of the patient.
dc.description.conferencedateOCT 03-06, 2012
dc.description.conferencelocalFlorence, ITALY
dc.description.conferencename15th Biennial Meeting European-Society-for-Immunodeficiency (ESID)
dc.description.indexMEDLINE
dc.identifier.citationJOURNAL OF CLINICAL IMMUNOLOGY, v.32, suppl.1, p.344-344, 2012
dc.identifier.issn0271-9142
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/3188
dc.language.isoeng
dc.publisherSPRINGER/PLENUM PUBLISHERS
dc.relation.ispartofJournal of Clinical Immunology
dc.rightsrestrictedAccess
dc.rights.holderCopyright SPRINGER/PLENUM PUBLISHERS
dc.subject.wosImmunology
dc.titleIL-12R BETA1 DEFICIENCY AND PARACOCCIDIOIDOMYCOSIS: A SECOND CASE REPORT
dc.typeconferenceObject
dc.type.categorymeeting abstract
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.author.externalDIAS, A. Santos:Univ Sao Paulo, Fac Med, Lab Med Invest Dermatol & Immunodeficiencies, Sao Paulo, Brazil
hcfmusp.author.externalCAMPEAS, A.:Inst Infectol Emilio Ribas, Sao Paulo, Brazil
hcfmusp.author.externalLIAN, Y. C.:Inst Infectol Emilio Ribas, Sao Paulo, Brazil
hcfmusp.author.externalBRASIL, R. A.:Inst Infectol Emilio Ribas, Sao Paulo, Brazil
hcfmusp.contributor.author-fmusphcDEWTON DE MORAES VASCONCELOS
hcfmusp.contributor.author-fmusphcNOEMIA MIE ORII SUNADA
hcfmusp.contributor.author-fmusphcTHIAGO DE ALMEIDA BEZERRA
hcfmusp.description.beginpage344
hcfmusp.description.endpage344
hcfmusp.description.issuesuppl 1
hcfmusp.description.volume32
hcfmusp.origemWOS
hcfmusp.origem.wosWOS:000308728900699
hcfmusp.publisher.cityNEW YORK
hcfmusp.publisher.countryUSA
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relation.isAuthorOfPublicationc125dbad-ec23-4d10-9875-8b210f236b22
relation.isAuthorOfPublication79add1aa-e404-4422-8feb-16ae39afd4b7
relation.isAuthorOfPublication.latestForDiscoveryb0e53635-a63a-4e69-8f68-7f2e43a5f244
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