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 …

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative multisystem
disorder. A minority of AT patients can present late-onset atypical presentations due to …

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

Background Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected
individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the …

Monogenic immune dysregulation diseases (MIDD) are caused by defective
immunotolerance. This study was designed to increase knowledge on the prevalence and …

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 …

Purpose MALT1 deficiency is a combined immune deficiency characterized by recurrent
infections, eczema, chronic diarrhea, and failure to thrive. Clinical and immunological …

Purpose Inborn errors of immunity (IEI) are typically monogenic. Data from the Indian
subcontinent are relatively scarce. This paper evaluates IEI diagnosed in Sri Lanka …

Background DCLRE1C gene mutation leads to Artemis deficiency, a severe form of
combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive …

Inborn errors of immunity represent a rapidly expanding group of genetic disorders of the
immune system. Significant advances have been made in recent years in diagnosis …