Neutropenias are conditions characterized by specific neutrophil defects that can produce congenital neutropenia associated or not with syndromic forms. For example, germline mutations that alter neutrophil elastase (encoded by ELANE) can cause severe congenital neutropenia and cyclic neutropenia. , while mutations in HAX1 can produce autosomal recessive congenital neutropenia. Pathogenic mutations in CSF3R, GFI1, WAS, and RAC2 cause neutropenia associated with other hematopoietic defects. Severe congenital neutropenias (NCS) are low-prevalence pediatric hematologic disorders characterized by germline mutations in genes that lead to failures of granulocyte maturation in the marrow. I mean. Affected children are at increased risk of infections and the development of leukemia. Syndromic conditions present with hematopoietic or extra-hematopoietic manifestations, and affected tissues or organs include: the heart (G6PC3 and TAZ), the urogenital system (G6PC3), the bones and the exocrine pancreas (Shwachman-Diamond syndrome), the skin (LAMTOR2) and liver (glycogen storage; SLC37A4), among others.
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