Genetic, immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiency

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dc.authoridYasemin Altuner Torun / 0000-0002-9860-8596en_US
dc.authorscopusidYasemin Altuner Torun / 56615130500
dc.contributor.authorVoyer, Tom Le
dc.contributor.authorSakata, Sonoko
dc.contributor.authorTsumura, Miyuki
dc.contributor.authorKhan, Taushif
dc.contributor.authorEsteve-Sole, Ana
dc.contributor.authorAl-Saud, Bandar K.
dc.contributor.authorGüngör, Hatice Eke
dc.contributor.authorAltuner Torun, Yasemin
dc.date.accessioned2021-07-13T06:56:26Z
dc.date.available2021-07-13T06:56:26Z
dc.date.issued2021en_US
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractAutosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections.We report the genetic, immunological, and clinical features of an international cohort of 32 patients from 20 kindreds: 24 patients with complete deficiency, and 8 patients with partial deficiency. Twenty-four patients suffered from mycobacterial disease (bacillus Calmette Guerin = 13, environmental mycobacteria = 10, or both in 1 patient). Fifty-four severe viral episodes occurred in sixteen patients, mainly caused by Herpesviridae viruses. Attenuated live measles, mumps, and rubella and/or varicella zoster virus vaccines triggered severe reactions in the five patients with complete deficiency who were vaccinated. Seven patients developed features of hemophagocytic syndrome. Twenty-one patients died, and death was almost twice as likely in patients with complete STAT1 deficiency than in those with partial STAT1 deficiency. All but one of the eight survivors with AR complete deficiency underwent hematopoietic stem cell transplantation. Overall survival after hematopoietic stem cell transplantation was 64%. A diagnosis of AR STAT1 deficiency should be considered in children with mycobacterial and/or viral infectious diseases. It is important to distinguish between complete and partial forms of AR STAT1 deficiency, as their clinical outcome and management differ significantly.en_US
dc.identifier.citationLe Voyer, T., Sakata, S., Tsumura, M., Khan, T., Esteve-Sole, A., Al-Saud, B. K., ... & Bustamante, J. (2021). Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency. The Journal of Immunology, 207(1), 133-152.en_US
dc.identifier.doi10.4049/jimmunol.2001451en_US
dc.identifier.endpage152en_US
dc.identifier.issn0022-1767en_US
dc.identifier.issue1en_US
dc.identifier.pmid34183371en_US
dc.identifier.scopus2-s2.0-85109024700en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage133en_US
dc.identifier.urihttps://doi.org/10.4049/jimmunol.2001451
dc.identifier.urihttps://hdl.handle.net/20.500.12713/1917
dc.identifier.volume207en_US
dc.identifier.wosWOS:000731178500015en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorAltuner Torun, Yasemin
dc.language.isoenen_US
dc.publisherAmerican Association of Immunologistsen_US
dc.relation.ispartofJournal of Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleGenetic, immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiencyen_US
dc.typeArticleen_US

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