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Article

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.

European journal of endocrinology - 1 Aug 2010

Pugliese-Pires Patricia N, Tonelli Carlos A, Dora Jose M, Silva Paulo C A, Czepielewski Mauro, Simoni Genoir, Arnhold Ivo J P, Jorge Alexander A L

Abstract excerpt

BACKGROUND: GH insensitivity (GHI) syndrome caused by STAT5B mutations was recently reported, and it is characterized by extreme short stature and immune dysfunction. Treatment with recombinant human IGF1 (rhIGF1) is approved for patients with GHI, but the growth response to this therapy in patients with STAT5B mutations has not been reported. OBJECTIVES: To report the clinical features, molecular findings, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20538865
DOI: 10.1530/EJE-10-0272

Genes

BID
IGF1

Provenance

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A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.PMID 20538865Read ↗

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Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b MutationSemantic proximity Read ↗

[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].Semantic proximity Read ↗

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STAT5B deficiency: Impacts on human growth and immunity.Semantic proximity Read ↗

Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.Semantic proximity Read ↗

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.Semantic proximity Read ↗

Interstitial lung disease in an adolescent child associated with a novel STAT5B mutation-a case reportSemantic proximity Read ↗

Growth Hormone Insensitivity Associated with a <i>STAT5b</i> MutationSemantic proximity Read ↗

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A Novel Missense Mutation in the SH2 Domain of the<i>STAT5B</i>Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary DiseaseSemantic proximity Read ↗

STAT5B mutations in heterozygous state have negative impact on height: another clue in human stature heritability.Semantic proximity Read ↗

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