Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant

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dc.authoridGönül Çatlı / 0000-0002-0488-6377en_US
dc.authorscopusidGönül Çatlı / 35783928000en_US
dc.authorwosidGönül Çatlı / EOU-3210-2022en_US
dc.contributor.authorÇatlı, Gönül
dc.contributor.authorGao, Wen
dc.contributor.authorFoley, Corinne
dc.contributor.authorÖzyılmaz, Berk
dc.contributor.authorEdeer, Neslihan
dc.contributor.authorDiniz, Gülden
dc.contributor.authorLosekoot, Monique
dc.contributor.authorvan Doorn, Jaap
dc.contributor.authorDauber, Andrew
dc.contributor.authorDündar, Bumin N.
dc.contributor.authorWit, Jan M.
dc.contributor.authorHwa, Vivian
dc.date.accessioned2022-11-08T13:20:11Z
dc.date.available2022-11-08T13:20:11Z
dc.date.issued2022en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractSTAT5B deficiency, a rare autosomal recessive disorder characterized by severe growth hormone insensitivity (GHI) and immunodeficiency, can manifest as fatal pulmonary complications. We describe atypical STAT5B deficiency associated with a novel homozygous frame-shift STAT5B variant [c.1453delG, p.(Asp485Thrfs*29)] identified in a young 17.6 yr old female subject who had severe postnatal growth impairment, biochemistries typical of GHI, an immune profile notable for hypergammaglobulinaemia and elevated B lymphocytes, and lack of pulmonary disease. Marked elevation of serum prolactin and pathologically diagnosed eczema were evident. In reconstitution studies, the STAT5B p.(Asp485Thrfs*29) was expressed although expression was reduced compared to wild-type STAT5B and a previously identified STAT5B p.(Gln368Profs*9) variant. Both truncated STAT5B peptides could not be activated by GH, nor mobilize to the nucleus. We conclude that an intact, functional, STAT5B is essential for normal GH-mediated growth, while expressed loss-of-function STAT5B variants may alleviate severe immune and pulmonary issues normally associated with STAT5B deficiency.en_US
dc.identifier.citationCatli, G., Gao, W., Foley, C., Özyilmaz, B., Edeer, N., Diniz, G., . . . Hwa, V. (2023). Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B variant. Molecular and Cellular Endocrinology, 559 doi:10.1016/j.mce.2022.111799en_US
dc.identifier.doi10.1016/j.mce.2022.111799en_US
dc.identifier.scopus2-s2.0-85140240403en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.urihttps://doi.org/10.1016/j.mce.2022.111799
dc.identifier.urihttps://hdl.handle.net/20.500.12713/3266
dc.identifier.volume559en_US
dc.identifier.wosWOS:000900107200004en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÇatlı, Gönül
dc.language.isoenen_US
dc.publisherElsevier Ireland Ltden_US
dc.relation.ispartofMolecular and Cellular Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGrowth Hormone Insensitivityen_US
dc.subjectImmune Deficiencyen_US
dc.subjectSTAT5Ben_US
dc.titleAtypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Varianten_US
dc.typeArticleen_US

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