Sandra Steinmann

TL;DR: Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long‐term disease‐free survival, and when performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen.

TL;DR: The German PID-NET registry is a precious tool for physicians, researchers, the pharmaceutical industry, politicians, and ultimately the patients, for whom the outcomes will eventually lead to a more timely diagnosis and better treatment.

TL;DR: In this paper, age-related initial presenting manifestations of Inborn errors of immunity (IEI) including different IEI disease cohorts were analyzed. But, although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.

TL;DR: In this paper, the outcome of hematopoietic cell transplantation (HCT) in patients with ADA2 deficiency was studied, and the primary outcome was overall survival (OS).

TL;DR: Timely radiographic imaging allows straightforward delineation of infantile malignant osteopetrosis and facilitates immediate initiation of appropriate therapy.