Selected Publications

Légeret C, Meyer BJ, Rovina A, Deigendesch N, Berger CT, Daikeler T, Heijnen I, Burst-ein E, Köhler H and Recher M (2020). JAK inhibition in a patient with X-linked reticulate pigmentary disorder J Clin Immunol. in press.

Delmonte OM, Baldin F, Ovchinsky N, Marquardsen F, Recher M, Notarangelo LD, and Kosinski SM (2020). Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD. J Clin Immu-nol 40, 236–239.

Burgener AV, Bantug GR, Meyer BJ, Higgins R, Ghosh A, Bignucolo O, Ma EH, Loeliger J, Unterstab G, Geigges M, et al. (2019). SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2. Nat Immunol 20, 1311–1321.

Marquardsen FA, Baldin F, Wunderer F, Al-Herz W, Mikhael R, Lefranc G, Baz Z, Rezaee F, Hanna R, Kfir-Erenfeld S, et al. (2017). Detection of Sp110 by Flow Cytom-etry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol 37, 707–714.

Navarini AA, Hruz P, Berger CT, Hou TZ, Schwab C, Gabrysch A, Higgins R, Frede N, Padberg Sgier BC, Kampe O, et al. (2017). Vedolizumab as a successful treatment of CTLA-4- associated autoimmune enterocolitis. J Allergy Clin Immunol 139, 1043–1046 e1045.