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STAT5B Deficiency

MedGen UID:
1385464
•Concept ID:
C4331952
•
Disease or Syndrome

Definition

Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene, encoding signal transducer and activator of transcription 5B, a protein critical for the transcription of growth hormone-dependent genes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSTAT5B Deficiency

Professional guidelines

PubMed

Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Arjona Aguilera C, Albarrán Planelles C, Tercedor Sánchez J
Actas Dermosifiliogr 2016 Mar;107(2):116-24. Epub 2015 Dec 1 doi: 10.1016/j.ad.2015.09.013. PMID: 26593686

Recent clinical studies

Etiology

Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
Muthuvel G, Al Remeithi SS, Foley C, Dauber A, Hwa V, Backeljauw P
Horm Res Paediatr 2024;97(2):195-202. Epub 2023 Aug 16 doi: 10.1159/000531491. PMID: 37586336
Dysregulatory syndromes: the role of signal transducers and activators of transcription.
Bezrodnik L, Gaillard MI, Caldirola MS
Curr Opin Pediatr 2018 Dec;30(6):821-828. doi: 10.1097/MOP.0000000000000685. PMID: 30407975
STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.
Lorenzini T, Dotta L, Giacomelli M, Vairo D, Badolato R
J Leukoc Biol 2017 Jan;101(1):29-38. Epub 2016 Nov 1 doi: 10.1189/jlb.5RI0516-237RR. PMID: 27803128

Diagnosis

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Catli G, Gao W, Foley C, Özyilmaz B, Edeer N, Diniz G, Losekoot M, van Doorn J, Dauber A, Dundar BN, Wit JM, Hwa V
Mol Cell Endocrinol 2023 Jan 1;559:111799. Epub 2022 Oct 17 doi: 10.1016/j.mce.2022.111799. PMID: 36265659
Developmental Adaptive Immune Defects Associated with STAT5B Deficiency in Three Young Siblings.
Foley CL, Al Remeithi SS, Towe CT, Dauber A, Backeljauw PF, Tyzinski L, Kumar AR, Hwa V
J Clin Immunol 2021 Jan;41(1):136-146. Epub 2020 Oct 22 doi: 10.1007/s10875-020-00884-6. PMID: 33090292Free PMC Article
Type 1 Diabetes in STAT Protein Family Mutations: Regulating the Th17/Treg Equilibrium and Beyond.
Fabbri M, Frixou M, Degano M, Fousteri G
Diabetes 2019 Feb;68(2):258-265. doi: 10.2337/db18-0627. PMID: 30665954
Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E.
Arjona Aguilera C, Albarrán Planelles C, Tercedor Sánchez J
Actas Dermosifiliogr 2016 Mar;107(2):116-24. Epub 2015 Dec 1 doi: 10.1016/j.ad.2015.09.013. PMID: 26593686
Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features.
Bezrodnik L, Di Giovanni D, Caldirola MS, Azcoiti ME, Torgerson T, Gaillard MI
J Clin Immunol 2015 Apr;35(3):264-72. Epub 2015 Mar 11 doi: 10.1007/s10875-015-0145-5. PMID: 25753012

Therapy

Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
Muthuvel G, Al Remeithi SS, Foley C, Dauber A, Hwa V, Backeljauw P
Horm Res Paediatr 2024;97(2):195-202. Epub 2023 Aug 16 doi: 10.1159/000531491. PMID: 37586336

Prognosis

Dysregulatory syndromes: the role of signal transducers and activators of transcription.
Bezrodnik L, Gaillard MI, Caldirola MS
Curr Opin Pediatr 2018 Dec;30(6):821-828. doi: 10.1097/MOP.0000000000000685. PMID: 30407975

Clinical prediction guides

Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency.
Muthuvel G, Al Remeithi SS, Foley C, Dauber A, Hwa V, Backeljauw P
Horm Res Paediatr 2024;97(2):195-202. Epub 2023 Aug 16 doi: 10.1159/000531491. PMID: 37586336
Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.
Vargas-Hernández A, Witalisz-Siepracka A, Prchal-Murphy M, Klein K, Mahapatra S, Al-Herz W, Mace EM, Carisey AF, Orange JS, Sexl V, Forbes LR
J Allergy Clin Immunol 2020 Jan;145(1):345-357.e9. Epub 2019 Oct 7 doi: 10.1016/j.jaci.2019.09.016. PMID: 31600547Free PMC Article
A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
Scaglia PA, Martínez AS, Feigerlová E, Bezrodnik L, Gaillard MI, Di Giovanni D, Ballerini MG, Jasper HG, Heinrich JJ, Fang P, Domené HM, Rosenfeld RG, Hwa V
J Clin Endocrinol Metab 2012 May;97(5):E830-9. Epub 2012 Mar 14 doi: 10.1210/jc.2011-2554. PMID: 22419735
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
Vidarsdottir S, Walenkamp MJ, Pereira AM, Karperien M, van Doorn J, van Duyvenvoorde HA, White S, Breuning MH, Roelfsema F, Kruithof MF, van Dissel J, Janssen R, Wit JM, Romijn JA
J Clin Endocrinol Metab 2006 Sep;91(9):3482-5. Epub 2006 Jun 20 doi: 10.1210/jc.2006-0368. PMID: 16787985

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