Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting
children and adults. Signs and symptoms of IEI are heterogeneous, and accurate diagnosis …

Background Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of
immunity, which cause high rates of morbidity and mortality mainly among children due to …

Background Inborn errors of immunity (IEI) are a group of heterogeneous disorders with
geographic and ethnic diversities. Although IEI are common in Egypt, genetic diagnosis is …

Beginning in 1970, a committee was constituted under the auspices of the World Health
Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the …

Patient registries are instrumental for clinical research in rare diseases. They help to achieve
a sufficient sample size for epidemiological and clinical research and to assess the …

Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary
immunodeficiencies (PI) and the recognition of immune dysregulation as a feature in some …

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

Abstract Since 2013, the International Union of Immunological Societies (IUIS) expert
committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic …

Abstract The International Union of Immunological Societies (IUIS) expert committee (EC) on
Inborn Errors of Immunity (IEI) reports here the 2022 updated phenotypic classification …

Recent advances in the field of inborn errors of immunity (IEIs) have been wide in scope,
including progress in mechanisms of disease, diagnosis, and management. New gene …