OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
J Clin Immunol
; 44(1): 10, 2023 12 22.
Article
em En
| MEDLINE
| ID: mdl-38129331
ABSTRACT
Here, we describe an adult female with severe fasciitis and skin necrosis who carried a private, predicted deleterious missense mutation in OTULIN in heterozygosity. OTULIN is a cellular regulator of deubiquitination that has been shown to play a key role in intrinsic immunity against staphylococcal α-toxin. The patient was treated with broad-spectrum antibiotics, and multiple surgical explorations were conducted without clinical response. Since autoinflammation was the predominant clinical feature, TNF inhibition was started with a good clinical response. We show that excessive inflammation in OTULIN haploinsufficiency can be effectively treated by TNF inhibition.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fasciite
/
Haploinsuficiência
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article