Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function. Non-syndromic variants of congenital neutropenia are caused by mutations in ELA2, HAX1, GFI1, or WAS. Syndromic variants of congenital neutropenia may be d...

•Multi-omics approaches identify unique signatures•Whole-exome sequencing reveals distinct cytokine profiles•Expression of GATA4, PF4, and LST1 is dysregulated Autosomal recessive mutations in G6PC3 cause isolated syndromic congenital neutropenia which includes heart disease atypical inflammatory bowel (IBD). In a highly consanguineous pedigree with novel MPL, we performed comprehensive multi-o...