The IL-6 family of cytokines mediates functions in host protective immunity, development of
multiple organs, tissue regeneration and metabolism. Inborn errors in cytokines or cytokine …

Inborn errors of immunity (IEI) are a diverse group of monogenic disorders of the immune
system due to germline variants in genes important for the immune response. Over the past …

Somatic mutations (also known as acquired mutations) are emerging as common, age-
related processes that occur in all cells throughout the body. Somatic mutations are …

Background To explore the regulatory effect of serine/arginine repetitive matrix 1 (SRRM1)
on hepatocellular carcinoma (HCC) and its potential pathway. Methods SRRM1 level in the …

Genetic mosaicism in somatic cells can lead to the presence of pathogenic variants in a
subset of immune cells causing genetic errors of immunity (GEI), often phenocopying …

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder
clinically defined by chronic and benign lymphoproliferation, autoimmunity and an increased …

Common variable immunodeficiency (CVID) is the most common symptomatic antibody
deficiency, characterized by heterogeneous genetic, immunological, and clinical …

The IL-6–gp130–STAT3 signaling axis is a major regulator of inflammation. Activating
mutations in the gene encoding gp130 and germline gain-of-function mutations in STAT3 …

Genetic variants in IL6ST encoding the shared cytokine receptor for the IL-6 cytokine family
GP130 have been associated with a diverse number of clinical phenotypes and disorders …

Mental illness and cognitive disorders represent a serious problem for the modern society.
Many studies indicate that mental disorders are polygenic and that impaired brain …