CIBSS - Centre for integrative Biological Signalling Studies CIBSS

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari ME, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, Grimbacher B, Biebl A, Schauer U, Hague R, Neth O, Mauracher A, Pachlopnik Schmid J, Fabre A, Kostyuchenko L, Führer M, Lorenz MR, Schwarz K, Rohr J, Ehl S.

Clin Immunol. 2020;210:108316

Clin Immunol.              online article

Germline STAT3 gain-of-function mutations asscociated with autoimmunity and lymphoproliferation cluster in 3 groups that differentially affect individual molecular steps in the STAT3 signaling cascade. These functional groups associate with disease penetrance.