JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
About this item
Full title
Author / Creator
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 and Alangari, Abdullah A
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
A neonate with a loss-of-function mutation in
USP18
and exuberant expression of interferon-stimulated genes was experimentally treated with ruxolitinib, which suppresses interferon signaling. The initiation of treatment was followed by an improvement in the child’s clinical course.
Alternative Titles
Full title
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7155173
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7155173
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1905633
