New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome

Patients with autosomal dominant (AD) hyper-IgE syndrome (HIES) suffer from a constellation of manifestations including recurrent bacterial and fungal infections, severe atopy, and skeletal abnormalities. This condition is typically caused by monoallelic dominant-negative (DN) STAT3 variants. In 202...

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Detalles Bibliográficos
Autores principales: Arlabosse, Tiphaine, Materna, Marie, Riccio, Orbicia, Schnider, Caroline, Angelini, Federica, Perreau, Matthieu, Rochat, Isabelle, Superti-Furga, Andrea, Campos-Xavier, Belinda, Héritier, Sébastien, Pereira, Anaïs, Deswarte, Caroline, Lévy, Romain, Distefano, Marco, Bustamante, Jacinta, Roelens, Marie, Borie, Raphaël, Le Brun, Mathilde, Crestani, Bruno, Casanova, Jean-Laurent, Puel, Anne, Hofer, Michaël, Fieschi, Claire, Theodoropoulou, Katerina, Béziat, Vivien, Candotti, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10499999/
https://www.ncbi.nlm.nih.gov/pubmed/37273120
http://dx.doi.org/10.1007/s10875-023-01517-4

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