Growth hormone insensitivity with immunodeficiency is an autosomal recessive disorder caused by loss-of-function mutations of the STAT5B gene.
|Growth hormone insensitivity|
|Growth hormone insensitivity with immunodeficiency|
|Insulin-like growth factor 1 deficiency|
|Insulin-like growth factor 1 resistance|
|Insulin-like growth factor 1 transport protein deficiency|
Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.
Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency.
Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
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.
Laron Z et al. () Genetic pituitary dwarfism with high serum concentation of growth hormone--a new inborn error of metabolism?
Buchanan CR et al. (1991) Laron-type dwarfism with apparently normal high affinity serum growth hormone-binding protein.
Laron Z et al. (1993) Laron syndrome due to a post-receptor defect: response to IGF-I treatment.
Freeth JS et al. (1997) Human skin fibroblasts as a model of growth hormone (GH) action in GH receptor-positive Laron's syndrome.
OMIM.ORG articleOmim 245590