Die Wachstumshormoninsensitivität mit Störungen der Immunantwort ist eine autosomal rezessive Erkrankung, die durch Mutationen des Transkriptionsfaktor STAT5B hevorgerufen wird.
1. |
Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation. |
2. |
Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. |
3. |
Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. |
4. |
Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency. |
5. |
Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. |
6. |
Hwa V et al. (2007) Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. |
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Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism? |
8. |
Buchanan CR et al. (1991) Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein. |
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Laron Z et al. (1993) Laron syndrome due to a post-receptor defect: response to IGF-I treatment. |
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Freeth JS et al. (1997) Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome. |
11. |
OMIM.ORG article Omim 245590 |