Article
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
The Journal of experimental medicine - 2 Sept 2024
Jeanpierre Marie, Cognard Jade, Tusseau Maud, Riller Quentin, Bui Linh-Chi, Berthelet Jérémy, Laurent Audrey, Crickx Etienne, Parlato Marianna, Stolzenberg Marie-Claude, Suarez Felipe, Leverger Guy, Aladjidi Nathalie, Collardeau-Frachon Sophie, Pietrement Christine, Malphettes Marion, Froissart Antoine, Bole-Feysot Christine, Cagnard Nicolas, Rodrigues Lima Fernando, Walzer Thierry, Rieux-Laucat Frédéric, Belot Alexandre, Mathieu Anne-Laure
Abstract excerpt
An exome sequencing strategy employed to identify pathogenic variants in patients with pediatric-onset systemic lupus or Evans syndrome resulted in the discovery of six novel monoallelic mutations in PTPN2. PTPN2 is a phosphatase that acts as an essential negative regulator of the JAK/STAT pathways. All mutations led to a loss of PTPN2 regulatory function as evidenced by in vitro assays and by hyperproliferation...
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