Germline mutations of signal transducer and activator of transcription 3 (STAT3) are responsible for 2 distinct human diseases: autosomal-dominant hyper-IgE syndrome (AD-HIES) caused by STAT3 loss-of-function mutations and STAT3 gain-of-function disease. So far, these entities have been regarded as antithetic, with AD-HIES mainly associated with characteristic infections and a connective tissue phenotype and STAT3 gain-of-function characterized by lymphoproliferation and poly-autoimmunity. The R335W substitution in the DNA-binding domain of STAT3 was initially described in 2 patients with typical AD-HIES, but paradoxically, recent functional analysis demonstrated a gain-of-function effect of this variant.

STAT3-confusion-of-function: Beyond the loss and gain dualism / Lodi, Lorenzo; Faletti, Laura Eva; Maccari, Maria Elena; Consonni, Filippo; Groß, Miriam; Pagnini, Ilaria; Ricci, Silvia; Heeg, Maximilian; Simonini, Gabriele; Azzari, Chiara; Ehl, Stephan. - In: THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. - ISSN 1097-6825. - ELETTRONICO. - (2022), pp. 0-0. [10.1016/j.jaci.2022.06.007]

STAT3-confusion-of-function: Beyond the loss and gain dualism

Lodi, Lorenzo;Consonni, Filippo;Pagnini, Ilaria;Ricci, Silvia
;
Simonini, Gabriele;Azzari, Chiara;
2022

Abstract

Germline mutations of signal transducer and activator of transcription 3 (STAT3) are responsible for 2 distinct human diseases: autosomal-dominant hyper-IgE syndrome (AD-HIES) caused by STAT3 loss-of-function mutations and STAT3 gain-of-function disease. So far, these entities have been regarded as antithetic, with AD-HIES mainly associated with characteristic infections and a connective tissue phenotype and STAT3 gain-of-function characterized by lymphoproliferation and poly-autoimmunity. The R335W substitution in the DNA-binding domain of STAT3 was initially described in 2 patients with typical AD-HIES, but paradoxically, recent functional analysis demonstrated a gain-of-function effect of this variant.
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Lodi, Lorenzo; Faletti, Laura Eva; Maccari, Maria Elena; Consonni, Filippo; Groß, Miriam; Pagnini, Ilaria; Ricci, Silvia; Heeg, Maximilian; Simonini, Gabriele; Azzari, Chiara; Ehl, Stephan
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1287322
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