Myelodysplastic syndrome (MDS) typically presents in older adults with the acquisition of
age-related somatic mutations, whereas MDS presenting in children and younger adults is …

Shwachman-Diamond syndrome (SDS) is an inherited multisystem ribosomopathy
characterized by exocrine pancreatic deficiency, bone marrow failure, and predisposition to …

We report the updated classification of Inborn Errors of Immunity/Primary
Immunodeficiencies, compiled by the International Union of Immunological Societies Expert …

Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …

Shwachman-Diamond syndrome is a rare inherited bone marrow failure syndrome
characterized by neutropenia, exocrine pancreatic insufficiency, and skeletal abnormalities …

The endoplasmic reticulum represents the gateway to the secretory pathway. Here, proteins
destined for secretion, as well as soluble and membrane proteins that reside in the …

The ability of pancreatic β-cells to respond to increased demands for insulin during
metabolic stress critically depends on proper ribosome homeostasis and function. Excessive …

The innate immune system is the host's first line of defense against pathogens. Toll-like
receptors (TLRs) are pattern recognition receptors that mediate recognition of pathogen …

New primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics New
primary immunodeficiencies 2021 context and future : Current Opinion in Pediatrics Log in or …

Co-translational protein targeting to membranes by the signal recognition particle (SRP) is a
universally conserved pathway from bacteria to humans. In mammals, SRP and its receptor …