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STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases.
Lorenzini T, Dotta L, Giacomelli M, Vairo D, Badolato R. Lorenzini T, et al. J Leukoc Biol. 2017 Jan;101(1):29-38. doi: 10.1189/jlb.5RI0516-237RR. Epub 2016 Nov 1. J Leukoc Biol. 2017. PMID: 27803128 Review.
STAT5B LOF and STAT3 GOF mutations are both associated with disorders characterized by autoimmune or allergic manifestations, together with increased risk of infections. Particularly, STAT5b deficiency results in growth hormone (GH) insensitivity, immunodeficiency, …
STAT5B LOF and STAT3 GOF mutations are both associated with disorders characterized by autoimmune or allergic manifestations, together with …
Dysregulatory syndromes: the role of signal transducers and activators of transcription.
Bezrodnik L, Gaillard MI, Caldirola MS. Bezrodnik L, et al. Curr Opin Pediatr. 2018 Dec;30(6):821-828. doi: 10.1097/MOP.0000000000000685. Curr Opin Pediatr. 2018. PMID: 30407975 Review.
STAT1 GOF mutations were described as the major cause of chronic mucocutaneous candidiasis, while activating STAT3 mutations result in early-onset multiorgan autoimmunity and ID. Human STAT5b deficiency is a rare disease that also involves ID and severe growth failu …
STAT1 GOF mutations were described as the major cause of chronic mucocutaneous candidiasis, while activating STAT3 mutations result in early …
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. Muthuvel G, et al. Horm Res Paediatr. 2024;97(2):195-202. doi: 10.1159/000531491. Epub 2023 Aug 16. Horm Res Paediatr. 2024. PMID: 37586336
This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B deficiency. CASE PRESENTATION: Three siblings (P1, 4.4 year-old female; P2, 2.3 year-old male; and P3, 7 month-old female) with severe …
This report describes the efficacy and safety of recombinant human IGF-1 (rhIGF-1) in treating severe growth failure due to STAT5B …