Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wachstumshormoninsensitivität mit Immundefizit

Die Wachstumshormoninsensitivität mit Störungen der Immunantwort ist eine autosomal rezessive Erkrankung, die durch Mutationen des Transkriptionsfaktor STAT5B hevorgerufen wird.

Gliederung

Wachstumshormon-Unempfindlichkeit
Insulinähnlicher Wachtumsfaktor 1 Mangel
Insulinähnlicher Wachtumsfaktor 1 Resistenz
Insulinähnlicher Wachtumsfaktor 1-Transportproteinmangel
Laron-Syndrom
SH2B1
Wachstumshormoninsensitivität mit Immundefizit
STAT5B

Referenzen:

1.

Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.

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2.

Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

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3.

Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.

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4.

Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency.

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5.

Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.

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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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7.

Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?

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8.

Buchanan CR et al. (1991) Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein.

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9.

Laron Z et al. (1993) Laron syndrome due to a post-receptor defect: response to IGF-I treatment.

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10.

Freeth JS et al. (1997) Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome.

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