Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth hormone insensitivity with immunodeficiency

Growth hormone insensitivity with immunodeficiency is an autosomal recessive disorder caused by loss-of-function mutations of the STAT5B gene.

Systematic

Growth hormone insensitivity
Growth hormone insensitivity with immunodeficiency
STAT5B
IGFBP3
Insulin-like growth factor 1 deficiency
Insulin-like growth factor 1 resistance
Insulin-like growth factor 1 transport protein deficiency
Laron syndrome
SH2B1

References:

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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11.

OMIM.ORG article

Omim 245590 [^]
Update: May 10, 2019