Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients

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Abstract: Gain-of-function variants in STAT3 are known to cause severe, multifaceted autoimmunity. Here we report three individuals with de-novo STAT3 GOF alleles and early-onset, severe interstitial lung disease manifesting during the first 3 years of life. Imaging and histology revealed different forms of interstitial pneumonia alongside fibrotic and cystic tissue destruction. Definitive diagnosis was established by postmortem whole exome sequencing and functional validation of two new STAT3 variants. Such lung-predominant forms of STAT3 GOF disease expand the phenotypic spectrum of diseases associated with activating STAT3 variants and add to our understanding of this life-threatening inborn error of immunity

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Pediatric pulmonology. - 56, 12 (2021) , 3934-3941, ISSN: 1099-0496

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2021

Creator: Gothe, Florian
Gehrig, Jonathan
Rapp, Christina K.
Knoflach, Katrin
Reu, Simone
Länger, Florian
Schramm, Dirk
Ley-Zaporozhan, Julia
Ehl, Stephan
Schwerk, Nicolaus
Faletti, Laura
Griese, Matthias

DOI: 10.1002/ppul.25684

URN: urn:nbn:de:bsz:25-freidok-2221972

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:23 AM CEST

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Associated

Gothe, Florian
Gehrig, Jonathan
Rapp, Christina K.
Knoflach, Katrin
Reu, Simone
Länger, Florian
Schramm, Dirk
Ley-Zaporozhan, Julia
Ehl, Stephan
Schwerk, Nicolaus
Faletti, Laura
Griese, Matthias
Universität

Time of origin

2021

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Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients

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Other Objects (12)

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