Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
IGFBP3
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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Update: 26. September 2018