Genetic, immunological, and clinical features of 32 patients with autosomal recessive STAT1 deficiency
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Dosyalar
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
American Association of Immunologists
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Autosomal 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.
Açıklama
Anahtar Kelimeler
Kaynak
Journal of Immunology
WoS Q Değeri
Q2
Scopus Q Değeri
Q1
Cilt
207
Sayı
1
Künye
Le 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.
