Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

The inherited bone marrow failure syndromes (IBMFS) typically present with significant
cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia …

Neutropenia, usually defined as a blood neutrophil count< 1· 5× 109/l, is a common medical
problem for children and adults. There are many causes for neutropenia, and at each stage …

Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable
to recurrent infections. Its severity is commensurate with the absolute count of neutrophil …

Glycosylation is an essential biological process that adds structural and functional diversity
to cells and molecules, participating in physiological processes such as immunity. The …

The glucose-6-phosphatase catalytic subunit 3 (G6PC3) encodes a ubiquitously expressed
enzyme that regulates cytoplasmic glucose availability. Loss-of-function biallelic G6PC3 …

Identification of genetic causes of neutropenia informs precision medicine approaches to
medical management and treatment. Accurate diagnosis of genetic neutropenia disorders …

In addition to being a vital organ for gas exchange, the lung is a crucial immune organ
continuously exposed to the external environment. Genetic defects that impair immune …

Congenital diarrhoeal disorders are a heterogeneous group of inherited malabsorptive or
secretory diseases typically appearing in the first weeks of life, which may be triggered by …

Infections represent the main cause of acute metabolic derangements and/or the worsening
of the clinical course of many inherited metabolic disorders (IMDs). The basic molecular …