DISEASE: Growth hormone insensitivity with immunodeficiency

Entry

H00931                      Disease

Name

Growth hormone insensitivity with immunodeficiency

Description

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.

Category

Musculoskeletal disease; Primary immunodeficiency

Brite

Human diseases [BR:br08402]
Immune system diseases
  Primary immunodeficiency
   H00931  Growth hormone insensitivity with immunodeficiency
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Disorders of the pituitary hormone system
    5A61  Hypofunction or certain specified disorders of pituitary gland
     H00931  Growth hormone insensitivity with immunodeficiency

Related
pathway

hsa04935

Growth hormone synthesis, secretion and action

Gene

(GHISID1/2) STAT5B [HSA:6777] [KO:K11224]

Comment

Laron syndrome is described in H00254.

Other DBs

ICD-11:

5A61.0

ICD-10:

D82.8 E34.3

MeSH:

C537871

OMIM:

245590 618985

Reference

PMID:17030597

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)
DOI:10.1542/peds.2005-2882

Reference

PMID:17287404

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)
DOI:10.1530/eje.1.02327

Reference

PMID:29844444

Authors

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfaffle R, Dattani MT, Dauber A, Hwa V

Title

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Journal

Nat Commun 9:2105 (2018)
DOI:10.1038/s41467-018-04521-0

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (7)   

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