Background: Unclassified primary antibody deficiency (unPAD) is a relatively novel inborn
error of immunity (IEI) condition that can vary with time to more defined entities. Since long …

The clinical expression of 22q11. 2 deletion syndrome (22q11. 2 DS) is extremely variable,
as patients can present with recurrent or severe infections, immune dysregulation, atopic …

Purpose This study aimed to investigate the correlation between calculated globulin (CG,
total protein level minus albumin level) and the gamma globulin fraction (Gamma), obtained …

The increasing quantity of gene–disease connections and the overlap in clinical
characteristics among various genetic disorders create challenges in distinguishing …

Background Pyogenic bacteria are associated with a wide range of clinical manifestations,
ranging from common and relatively mild respiratory and cutaneous infections to life …

Background Patients with immunodeficiencies commonly experience diagnostic delays
resulting in morbidity. There is an unmet need to identify patients earlier, especially those …

Infektionen und entzündliche Erkrankungen gehören zu den häufigsten
Vorstellungsgründen beim Kinderarzt. Sie sind aber auch die typischen Manifestationen von …

Background: An unclassified primary antibody deficiency (unPAD) is a widely
heterogeneous clinical entity, recently identified within the spectrum of Inborn Errors of …

Background: Inborn errors of immunity (IEI) are underdiagnosed disorders, leading to
increased morbimortality and expenses for healthcare system. Objectives: The study aimed …

The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has
been reported in small series, but the incidence of and risk factors for IBD in children with …