Introduction During the last 4 decades, registration of patients with primary
immunodeficiencies (PID) has played an essential role in different aspects of these diseases …

Inborn errors of immunity (IEIs) are immunological disorders characterized by variable
susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of …

Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a
challenge. A better description of the initial presenting manifestations should improve …

Arzneiverordnungs-Report 2023 Arznei verordnungsReport 2023 Wolf-Dieter Ludwig· Bernd
Mühlbauer Roland Seifert Hrsg. Page 2 Arzneiverordnungs-Report 2023 Page 3 Wolf-Dieter Ludwig …

Background The purpose of neonatal screening is the early detection of congenital
metabolic and endocrine disorders that, if untreated, could lead to fatal crises or other long …

Rubella virus (RuV) has recently been found in association with granulomatous
inflammation of the skin and several internal organs in patients with inborn errors of …

'There is no gene for fate'(citation from the movie 'GATTACA')—and there is no gene for
CVID. Common Variable ImmunoDeficiency (CVID) is the most prevalent primary …

Accurate and timely diagnosis of primary immunodeficiencies (PID) is an ongoing effort.
Individuals with PID can be severely impacted by their disease and many experience …

Activated PI3Kδ syndrome (APDS) is a rare inborn error of immunity (IEI) characterized
primarily by frequent infections, lymphoproliferation and autoimmunity. Since its initial …

Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a
multitude of clinical symptoms. Characterization of epidemiological and clinical data via …