title: [STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
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.
authors.affiliation: Unidade de Endocrinologia Genética, LIM-25, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil
authors.forename: Renata C
authors.initials: RC
authors.lastname: Scalco
authors.forename: Patrícia N
authors.initials: PN
authors.lastname: Pugliese-Pires
authors.forename: Alexander A L
authors.initials: AA
authors.lastname: Jorge
mesh_terms: D019382:Human Growth Hormone / Q000235:genetics*; D006801:Humans; D007154:Immune System Diseases / Q000235:genetics* / Q000276:immunology; D007378:Interleukins / Q000378:metabolism; D046150:Laron Syndrome / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D035583:Rare Diseases / Q000235:genetics* / Q000276:immunology; D050799:STAT5 Transcription Factor / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D015398:Signal Transduction
chemical_list: D007378:Interleukins; D050799:STAT5 Transcription Factor; D019382:Human Growth Hormone