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 thymic stromal cell development and function lead to impaired T-cell
development resulting in a susceptibility to opportunistic infections and autoimmunity. In …

Severe combined immunodeficiency (SCID) and other T cell lymphopenias can be detected
during newborn screening (NBS) by measuring T cell receptor excision circles (TRECs) in …

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

Chronic granulomatous disease (CGD) is a rare inborn error of immunity (IEI), characterized
by a deficient phagocyte killing due to the inability of NADPH oxidase to produce reactive …

Severe combined immunodeficiency (SCID) is one of the severe inborn errors of the immune
system associated with life-threatening infections. Variations in SCID phenotypes, especially …

Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a
clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple …

Severe combined immunodeficiency (SCID) is a primary inherited immunodeficiency
disease that presents before the age of three months and can be fatal. It is usually due to …

The constant battle between viruses and their hosts leads to their reciprocal evolution.
Viruses regularly develop survival strategies against host immunity, while their ability to …

Популяционный скрининг новорожденных на основе анализа концентрации
эксцизионных колец эписомальной ДНК, образующихся при перестройке Т-клеточного …