KEGG   DISEASE: H00931Help
Entry
H00931                      Disease                                

Name
Growth hormone insensitivity with immunodeficiency
Description
Growth hormone insensitivity with immunodeficiency 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.
Category
Musculoskeletal disease; Primary immunodeficiency
BRITE hierarchy
Pathway
ErbB signaling pathway
Chemokine signaling pathway  
Jak-STAT signaling pathway
Gene
STAT5B [HSA:6777] [KO:K11224]
Comment
Laron syndrome is described in H00254.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:17030597 (description, gene)
  Authors
Bernasconi A, Marino R, Ribas A, Rossi J, Ciaccio M, Oleastro M, Ornani A, Paz R, Rivarola MA, Zelazko M, Belgorosky A
  Title
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
  Journal
Pediatrics 118:e1584-92 (2006)
Reference
PMID:17287404 (description, gene)
  Authors
Walenkamp MJ, Vidarsdottir S, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA
  Title
Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
  Journal
Eur J Endocrinol 156:155-65 (2007)

» Japanese version

DBGET integrated database retrieval system