Growth hormone insensitivity with immunodeficiency

Definition:

Growth hormone insensitivity with immunodeficiency (GHISID) is a combined phenotype of growth hormone insensitivity that resembles Laron syndrome and immunodeficiency. Homozygous inactivating mutation in the STAT5b, a component of the GH signaling pathway, leads to a complete absence of protein expression.

References:

[1]. Andrea Bernasconi, et al. Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. Pediatrics. 2006 Nov;118(5):e1584-92. [Content Brief]

[2]. Jürgen Klammt, et al. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nat Commun. 2018 May 29;9(1):2105. [Content Brief]

[3]. Marie J E Walenkamp, et al. Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation. Eur J Endocrinol. 2007 Feb;156(2):155-65. [Content Brief]

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