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

doi:10.1007/s10875-023-01517-4

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

Journal of clinical immunology - 1 Oct 2023

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

Abstract excerpt

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 2020, we described 12 patients from eight kindreds with DN IL6ST variants resulting in a new form of AD HIES. These...

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

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