SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition

Haploinsufficiency of suppressor of cytokine signaling 1 (SOCS1) is a recently discovered autoinflammatory disorder with significant rheumatologic, immunologic, and hematologic manifestations. Here we report a case of SOCS1 haploinsufficiency in a 5-year-old child with profound arthralgias and immun...

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Detalles Bibliográficos
Autores principales: Michniacki, Thomas F., Walkovich, Kelly, DeMeyer, Lauren, Saad, Nadine, Hannibal, Mark, Basiaga, Matthew L., Horst, Kelly K., Mohan, Smriti, Chen, Liang, Brodeur, Kailey, Du, Yan, Frame, David, Ngo, Sandra, Simoneau, Jillian, Brown, Noah, Lee, Pui Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381392/
https://www.ncbi.nlm.nih.gov/pubmed/35976468
http://dx.doi.org/10.1007/s10875-022-01346-x

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