Article
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
The Journal of allergy and clinical immunology - 1 Apr 2023
Leiding Jennifer W, Vogel Tiphanie P, Santarlas Valentine G J, Mhaskar Rahul, Smith Madison R, Carisey Alexandre, Vargas-Hernández Alexander, Silva-Carmona Manuel, Heeg Maximilian, Rensing-Ehl Anne, Neven Bénédicte, Hadjadj Jérôme, Hambleton Sophie, Ronan Leahy Timothy, Meesilpavikai Kornvalee, Cunningham-Rundles Charlotte, Dutmer Cullen M, Sharapova Svetlana O, Taskinen Mervi, Chua Ignatius, Hague Rosie, Klemann Christian, Kostyuchenko Larysa, Morio Tomohiro, Thatayatikom Akaluck, Ozen Ahmet, Scherbina Anna, Bauer Cindy S, Flanagan Sarah E, Gambineri Eleonora, Giovannini-Chami Lisa, Heimall Jennifer, Sullivan Kathleen E, Allenspach Eric, Romberg Neil, Deane Sean G, Prince Benjamin T, Rose Melissa J, Bohnsack John, Mousallem Talal, Jesudas Rohith, Santos Vilela Maria Marluce Dos, O'Sullivan Michael, Pachlopnik Schmid Jana, Průhová Štěpánka, Klocperk Adam, Rees Matthew, Su Helen, Bahna Sami, Baris Safa, Bartnikas Lisa M, Chang Berger Amy, Briggs Tracy A, Brothers Shannon, Bundy Vanessa, Chan Alice Y, Chandrakasan Shanmuganathan, Christiansen Mette, Cole Theresa, Cook Matthew C, Desai Mukesh M, Fischer Ute, Fulcher David A, Gallo Silvanna, Gauthier Amelie, Gennery Andrew R, Gonçalo Marques José, Gottrand Frédéric, Grimbacher Bodo, Grunebaum Eyal, Haapaniemi Emma, Hämäläinen Sari, Heiskanen Kaarina, Heiskanen-Kosma Tarja, Hoffman Hal M, Gonzalez-Granado Luis Ignacio, Guerrerio Anthony L, Kainulainen Leena, Kumar Ashish, Lawrence Monica G, Levin Carina, Martelius Timi, Neth Olaf, Olbrich Peter, Palma Alejandro, Patel Niraj C, Pozos Tamara, Preece Kahn, Lugo Reyes Saúl Oswaldo, Russell Mark A, Schejter Yael, Seroogy Christine, Sinclair Jan, Skevofilax Effie, Suan Daniel, Suez Daniel, Szabolcs Paul, Velasco Helena, Warnatz Klaus, Walkovich Kelly, Worth Austen, Seppänen Mikko R J, Torgerson Troy R, Sogkas Georgios, Ehl Stephan, Tangye Stuart G, Cooper Megan A, Milner Joshua D, Forbes Satter Lisa R
Abstract excerpt
BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants....