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Alsohime, Fahad; Martin-Fernandez, Marta; Temsah, Mohamad-Hani; Alabdulhafid, Majed; Le Voyer, Tom; Alghamdi, Malak; Qiu, Xueer; Alotaibi, Najla; Alkahtani, Areej; Buta, Sofija; Jouanguy, Emmanuelle; Al-Eyadhy, Ayman; Gruber, Conor; Hasan, Gamal M; Bashiri, Fahad A; Halwani, Rabih; Hassan, Hamdy H; Al-Muhsen, Saleh; Alkhamis, Nouf; Alsum, Zobaida; Casanova, Jean-Laurent; Bustamante, Jacinta; Bogunovic, Dusan; Alangari, Abdullah A
The New England journal of medicine, 01/2020, Volume: 382, Issue: 3Journal Article
Deficiency of ubiquitin-specific peptidase 18 (USP18) is a severe type I interferonopathy. USP18 down-regulates type I interferon signaling by blocking the access of Janus-associated kinase 1 (JAK1) to the type I interferon receptor. The absence of USP18 results in unmitigated interferon-mediated inflammation and is lethal during the perinatal period. We describe a neonate who presented with hydrocephalus, necrotizing cellulitis, systemic inflammation, and respiratory failure. Exome sequencing identified a homozygous mutation at an essential splice site on . The encoded protein was expressed but devoid of negative regulatory ability. Treatment with ruxolitinib was followed by a prompt and sustained recovery. (Funded by King Saud University and others.).
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