Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico

Scalco, Renata C.; Pugliese-Pires, Patricia N; Jorge, Alexander A L

doi:10.1590/s0004-27302013000500001

Cited by 2 publications

(2 citation statements)

References 17 publications

(17 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Homozygous mutations in STAT5B gene cause growth hormone insensitivity (Hwa et al , 2011; Scalco et al , 2013), a syndrome characterized by the inability of target tissues to respond to growth hormone. The classic phenotype includes the same clinical signs found in growth hormone deficiency (for example, severe short stature, saddle nose and abdominal obesity), low IGF1 levels and normal to high basal and stimulated GH levels.…”

Section: Introductionmentioning

confidence: 99%

“…The classic phenotype includes the same clinical signs found in growth hormone deficiency (for example, severe short stature, saddle nose and abdominal obesity), low IGF1 levels and normal to high basal and stimulated GH levels. STAT5B deficient patients also present signs of immune dysregulation, such as recurrent infections, severe eczema and lymphoid interstitial pneumonia, a condition that is often associated to autoimmune diseases and that may evolve to progressive pulmonary fibrosis (Hwa et al , 2011; Scalco et al , 2013). These immune dysfunctions are partly due to a compromised IL2 signaling, since this interleukin is an essential factor in regulatory T-cells development and T-cells activation (Jenks et al , 2013).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

et al. 2017

Self Cite

View full text Add to dashboard Cite

Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del mutation, with 33 heterozygous individuals. The minor allelic frequency of this mutation was 0.29% in this population (confidence interval 95% 0.08-0.5%), which is significantly higher than the frequency of other pathogenic STAT5B allele variants observed in public databases (p < 0.001). All heterozygous carriers had the same haplotype present in the homozygous patients, found in only 9.4% of non-carriers (p < 0.001), supporting the existence of a founder effect. The Y-chromosome haplotype, mtDNA and genomic ancestry analysis indicated a European origin of this mutation. Our results provide compelling evidence for a founder effect of STAT5B c.424_427del mutation.

show abstract

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

et al. 2017

Self Cite

View full text Add to dashboard Cite

show abstract

Infectious diseases and immunological responses in adult subjects with lifetime untreated, congenital GH deficiency

et al. 2016

View full text Add to dashboard Cite

Growth hormone is important for the development and function of the immune system, but there is controversy on whether growth hormone deficiency is associated to immune disorders. A model of isolated growth hormone deficiency may clarify if the lack of growth hormone is associated with increased susceptibility to infections, or with an altered responsiveness of the immune system. We have studied the frequency of infectious diseases and the immune function in adults with congenital, untreated isolated growth hormone deficiency. In a cross-sectional study, 35 adults with isolated growth hormone deficiency due to a homozygous mutation in the growth hormone releasing hormone receptor gene and 31 controls were submitted to a clinical questionnaire, physical examination serology for tripanosomiasis, leishmaniasis, HIV, tetanus, hepatitis B and C, and serum total immunoglobulin G, M, E and A measurement. The immune response was evaluated in a subset of these subjects by skin tests and response to vaccination for hepatitis B, tetanus, and bacillus Calmette-Guérin. There was no difference between the groups in history of infectious diseases and baseline serology. Isolated growth hormone deficiency subjects had lower total IgG, but within normal range. There was no difference in the response to any of the vaccinations or in the positivity to protein Purified Derived, streptokinase or candidin. Adult untreated isolated growth hormone deficiency does not cause an increased frequency of infectious diseases, and does not alter serologic tests, but is associated with lower total IgG levels, without detectable clinical impact.

show abstract

Deficiência da STAT5B: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico

Cited by 2 publications

References 17 publications

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

Infectious diseases and immunological responses in adult subjects with lifetime untreated, congenital GH deficiency

Contact Info

Product

Resources

About