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

Using whole-exome sequencing to examine the genetic causes of immune deficiency in 235
common variable immunodeficiency (CVID) patients seen in the United States (Mount Sinai …

Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less
than 1: 1000 infected individuals below the age of 50, but the real impact of this pandemic …

Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs)
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by
hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is …

Abstract Background Coronavirus disease 2019 (COVID-19) exhibits a wide spectrum of
clinical manifestations, ranging from asymptomatic to critical conditions. Understanding the …

COVID-19 has had a calamitous effect on the global community. Despite intense study, the
immunologic response to the infection is only partially understood. In addition to older age …

Background About 80% of the roughly 7,000 known rare diseases are single gene
disorders, about 85% of which are ultra-rare, affecting less than one in one million …

Background LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary
immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the …

Abstract Hyper Immunoglobulin M syndrome (HIGM) is a rare primary immunodeficiency
disorder characterized by low or absent levels of serum IgG, IgA, IgE and normal or …