Initiating and maintaining optimal immune responses requires high levels of protein
synthesis, folding, modification and trafficking in leukocytes, which are processes …

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

Soft tissue sarcomas (STS) are rare and diverse mesenchymal cancers with limited
treatment options. Here we undertake comprehensive proteomic profiling of tumour …

One of the oldest mechanisms of immune defense against pathogens is through detection of
foreign DNA. Since human DNA is compartmentalized into the nucleus, its presence in the …

Coatomer complex I (COPI) mediates retrograde vesicular trafficking from Golgi to the
endoplasmic reticulum (ER) and within Golgi compartments. Deficiency in subunit alpha …

ADP-ribosylation factors (Arfs) are small GTPases regulating membrane traffic in the
secretory pathway. They are closely related and appear to have overlapping functions …

KDEL receptors (KDELRs) are ubiquitous seven-transmembrane domain proteins encoded
by three mammalian genes. They bind to and retro-transport endoplasmic reticulum (ER) …

CBL-B is an E3 ubiquitin ligase that ubiquitinates proteins downstream of immune receptors
to downregulate positive signaling cascades. Distinct homozygous mutations in CBLB were …

Background Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease
inherited in an autosomal dominant manner. Disease-causing variants in endoglin (ENG) …

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 …