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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | SCALCO, Renata C. | - |
dc.contributor.author | PUGLIESE-PIRES, Patricia N. | - |
dc.contributor.author | JORGE, Alexander A. L. | - |
dc.date.accessioned | 2014-01-28T22:17:20Z | - |
dc.date.available | 2014-01-28T22:17:20Z | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, v.57, n.5, p.333-338, 2013 | - |
dc.identifier.issn | 0004-2730 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/3912 | - |
dc.description.abstract | A new presentation of growth hormone insensitivity (GHI) caused by homozygous mutations in STAT5B (signal transducer and activator of transcription 5B) gene has been characterized in the last years. Its particularity is the association with severe immune dysfunction, especially with lymphocytic interstitial pneumonitis. This may mislead physicians into considering short stature as secondary to chronic immunological disease and consequently into underdiagnosing this form of GHI. The objective of this review is to propagate current knowledge about this rare pathology, facilitating the diagnosis of patients with GHI due to STAT5B mutations in endocrinology and other specialties clinics. Arq Bras Endocrinol Metab. 2013;57(5):333-8 | - |
dc.description.abstract | Uma nova apresentação da insensibilidade ao hormônio de crescimento (IGH), causada por mutações em homozigose no gene STAT5B (transdutor de sinal e ativador de transcrição tipo 5B), foi caracterizada nos últimos anos. Sua particularidade é a associação com quadros de disfunção imunológica grave, sendo o mais característico a pneumonite intersticial linfocítica. A presença concomitante de doenças crônicas imunológicas pode fazer com que a baixa estatura seja erroneamente considerada uma consequência do quadro clínico, levando ao subdiagnóstico dessa forma de IGH. O objetivo desta revisão é divulgar o conhecimento atual sobre essa rara patologia, facilitando o reconhecimento de pacientes com IGH secundária a mutações no gene STAT5B em ambulatórios de endocrinologia e de outras especialidades. Arq Bras Endocrinol Metab. 2013;57(5):333-8 | - |
dc.language.iso | por | - |
dc.publisher | SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.relation.ispartof | Arquivos Brasileiros de Endocrinologia e Metabologia | - |
dc.rights | openAccess | - |
dc.subject | STAT5B | - |
dc.subject | growth hormone insensitivity | - |
dc.subject | immune dysfunction | - |
dc.subject | autoimmunity | - |
dc.subject | baixa estatura | - |
dc.subject | insensibilidade ao hormônio de crescimento | - |
dc.subject | disfunção imunológica | - |
dc.subject | autoimunidade | - |
dc.subject.other | short stature | - |
dc.subject.other | laron-syndrome | - |
dc.subject.other | gh receptor | - |
dc.subject.other | mutation | - |
dc.subject.other | gene | - |
dc.subject.other | children | - |
dc.subject.other | patient | - |
dc.subject.other | immunodeficiency | - |
dc.subject.other | siblings | - |
dc.subject.other | 5b | - |
dc.title | Deficiência da STAT5B : uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico | - |
dc.title.alternative | STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction | - |
dc.type | article | - |
dc.rights.holder | Copyright SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA | - |
dc.identifier.doi | 10.1590/S0004-27302013000500001 | - |
dc.identifier.pmid | 23896798 | - |
dc.subject.wos | Endocrinology & Metabolism | - |
dc.type.category | review | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | PUGLIESE-PIRES, Patricia N.:Univ Sao Paulo, Fac Med, LIM 25, Unidade Endocrinol Genet,Disciplina Endocrinol, BR-01246903 Sao Paulo, Brazil | - |
hcfmusp.description.beginpage | 333 | - |
hcfmusp.description.endpage | 338 | - |
hcfmusp.description.issue | 5 | - |
hcfmusp.description.volume | 57 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | 2-s2.0-84880946458 | - |
hcfmusp.origem.id | WOS:000322398100001 | - |
hcfmusp.origem.id | SCIELO:S0004-27302013000500001 | - |
hcfmusp.publisher.city | RIO DE JANEIRO, RJ | - |
hcfmusp.publisher.country | BRAZIL | - |
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dc.description.index | MEDLINE | - |
hcfmusp.citation.scopus | 2 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/25 |
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art_SCALCO_STAT5B_deficiency_a_new_growth_hormone_insensitivity_syndrome_2013.PDF | publishedVersion (Portuguese) | 162.69 kB | Adobe PDF | View/Open |
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