We report the updated classification of inborn errors of immunity, compiled by the
International Union of Immunological Societies Expert Committee. This report documents the …

Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders
caused by excess activation of the innate immune system in an antigen-independent …

The recognition of new IEIs continues to advance at a rapid pace, which is due in part to
increased performance and application of genetic modalities as well as expansion of the …

Synaptic dysfunction is implicated in the pathophysiology of schizophrenia (SCZ) and
bipolar disorder (BP). We use quantitative mass spectrometry to carry out deep, unbiased …

Objective This study aimed to explore shared genetic etiology and the causality between
smoking status and type 2 diabetes (T2D), cardiovascular diseases (CVDs), and related …

Primary immunodeficiency (PID) disorders, also commonly referred to as inborn errors of
immunity, are a heterogenous group of human genetic diseases characterized by defects in …

Mitochondrial abnormalities are primarily seen in morphology, structure and function. They
can cause damage to organs, including the heart, brain and muscle, by various …

Aquaculture supplies the world food market with a significant amount of valuable protein.
Highly productive aquaculture fishes can be derived by utilizing genome-editing methods …

Synaptic dysfunction is implicated in the pathophysiology of schizophrenia (SCZ) and
bipolar disorder (BP). We used quantitative mass-spectrometry to carry out deep and …

Background McArdle disease is caused by myophosphorylase deficiency and results in
complete inability for muscle glycogen breakdown. A hallmark of this condition is muscle …