Laurence Boxer Kelly Walkovich

Severe congenital neutropenia What every physician needs to know: Severe congenital neutropenia (SCN) is a rare heterogenous disorder characterized by chronic severe neutropenia (absolute neutrophil count [ANC] less than 500/uL) and arrest of neutrophil maturation at the promyelocyte/myelocyte stage, due to a constitutional genetic defect. Patients with SCN are usually diagnosed in the first year…

Leukocyte adhesion deficiency, type 1 What every physician needs to know: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare autosomal recessive disorder of leukocyte function due to mutations in the gene for the common chain (CD18) of the ß2 integrin family, critical for firm adhesion of white blood cells to the endothelial membrane. It…