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. 2023 Nov;43(8):2156-2164.
doi: 10.1007/s10875-023-01595-4. Epub 2023 Oct 10.

Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome

Kenza Rhzioual Berrada  1 , Alexandre Belot  2   3   4 , Bénédicte Neven  5 , Camille Ohlmann  1 , François Tronc  6 , Gillian Rice  7 , Guillaume Thouvenin  8   9 , Jean-Christophe Dubus  10 , Julie Mazenq  10 , Marie-Louise Frémond  5   11 , Nathalie Stremler  10 , Séverine Soummer-Feuillet  12   13 , Vincent Cottin  14 , Philippe Reix  15   16
Affiliations

Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome

Kenza Rhzioual Berrada et al. J Clin Immunol. 2023 Nov.

Abstract

Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease related to STING1 mutation. SAVI is mainly characterized by fever attacks and skin and respiratory manifestations such as interstitial lung disease or alveolar hemorrhage. Respiratory involvement occurs in 80% of cases and might progress to severe lung fibrosis and require lung transplantation (LT). Three patients with SAVI who underwent LT have been reported to date. Two of the three patients died months or years after LT due to multiple organ failure or sepsis. However, the diagnosis of SAVI was made after LT, thus preventing the use of targeted therapy, such as the Janus kinase 1 and 2 inhibitor (JAK1/2i) ruxolitinib, which might be beneficial for the respiratory status of these patients. We aimed to report our experience in managing three patients who were followed in three large lung transplantation centers in France and who benefited from ruxolitinib before undergoing LT. We describe posttransplant complications that occurred as well as outcomes.

Keywords: Auto inflammatory diseases; JAK inhibitors; SAVI syndrome; TMEM173/STING1; lung transplant.

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