Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features

scientific article published on 11 March 2015

Long-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1044721868
P356DOI10.1007/S10875-015-0145-5
P698PubMed publication ID25753012

P2093author name stringDaniela Di Giovanni
Liliana Bezrodnik
María Isabel Gaillard
María Soledad Caldirola
María Esnaola Azcoiti
Troy Torgerson
P2860cites workA single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerizationQ24308939
Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptorQ24312136
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunityQ24317691
Specific Inhibition of Stat5a/b Promotes Apoptosis of IL-2-Responsive Primary and Tumor-Derived Lymphoid CellsQ28207804
Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b geneQ28295216
Stat5b is essential for natural killer cell-mediated proliferation and cytolytic activityQ28586849
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Q33718865
The role of Stat5a and Stat5b in signaling by IL-2 family cytokinesQ33941389
Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.Q34213297
Stat5a/b are essential for normal lymphoid development and differentiationQ34253065
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytesQ34596186
Nonredundant roles for Stat5a/b in directly regulating Foxp3Q35828667
Inborn errors of human JAKs and STATsQ35908479
The STAT5b Pathway Defect and AutoimmunityQ36162564
Requirement of STAT5b for sexual dimorphism of body growth rates and liver gene expressionQ36653664
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cellsQ36968542
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Abnormalities of B cell subsets in patients with systemic lupus erythematosusQ37769655
Bone marrow transplant completely rescues hematolymphoid defects in STAT5A/5B-deficient miceQ39127470
Follicular bronchiolitis as phenotype associated with CD25 deficiencyQ42263240
Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiencyQ46893433
STAT5 activation underlies IL7 receptor-dependent B cell developmentQ47810418
Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.Q51799147
Distinct effects of STAT5 activation on CD4+ and CD8+ T cell homeostasis: development of CD4+CD25+ regulatory T cells versus CD8+ memory T cells.Q52004102
Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.Q53623601
A dominant-negative mutation of the growth hormone receptor causes familial short statureQ62750368
Growth hormone insensitivity associated with a STAT5b mutationQ78758749
Essential Role for STAT5 Signaling in CD25+CD4+ Regulatory T Cell Homeostasis and the Maintenance of Self-ToleranceQ79074354
Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutationQ79215278
Upregulation of Foxp3 expression in mouse and human Treg is IL-2/STAT5 dependent: implications for the NOD STAT5B mutation in diabetes pathogenesisQ79386860
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 diseaseQ83656325
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblingsQ84386592
P433issue3
P304page(s)264-272
P577publication date2015-03-11
P1433published inJournal of Clinical ImmunologyQ6294961
P1476titleLong-term follow-up of STAT5B deficiency in three argentinian patients: clinical and immunological features
P478volume35