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JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
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.
Afiliação
  • Alsohime F; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Martin-Fernandez M; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Temsah MH; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alabdulhafid M; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Le Voyer T; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alghamdi M; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Qiu X; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alotaibi N; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alkahtani A; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Buta S; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Jouanguy E; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Al-Eyadhy A; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Gruber C; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Hasan GM; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Bashiri FA; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Halwani R; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Hassan HH; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Al-Muhsen S; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alkhamis N; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alsum Z; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Casanova JL; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Bustamante J; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Bogunovic D; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
  • Alangari AA; From the Department of Pediatrics (F.A., M.-H.T., M. Alabdulhafid, M. Alghamdi, N. Alotaibi, A.A., A.A.-E., G.M.H., F.A.B., S.A.-M., N. Alkhamis, Z.A., A.A.A.) and the Immunology Research Laboratory, Department of Pediatrics (R.H., S.A.-M.), College of Medicine, King Saud University, the Department
N Engl J Med ; 382(3): 256-265, 2020 01 16.
Article em En | MEDLINE | ID: mdl-31940699
ABSTRACT
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 USP18. 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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirazóis / Interleucinas / Interferons / Ubiquitina Tiolesterase / Janus Quinase 1 / Doenças Hereditárias Autoinflamatórias / Inibidores de Janus Quinases / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: N Engl J Med Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Pirazóis / Interleucinas / Interferons / Ubiquitina Tiolesterase / Janus Quinase 1 / Doenças Hereditárias Autoinflamatórias / Inibidores de Janus Quinases / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Humans / Male / Newborn Idioma: En Revista: N Engl J Med Ano de publicação: 2020 Tipo de documento: Article