Advanced genetic and biochemical techniques have helped to expand our knowledge of
congenital neutropenia syndromes. Known and novel genetic entities shed light on …

HAX‐1 comprises a family of ubiquitously expressed proteins that play important roles in the
regulation of programmed cell death. Herein, we provide a comprehensive review of the …

Severe congenital neutropenia (SCN) is characterized by low blood neutrophil counts, early
bacterial infections, and risk of leukaemia development. As yet, no population‐based …

Background Patients with severe congenital neutropenia (SCN) often develop periodontitis
despite standard medical and dental care. In light of previous findings that mutations in the …

Bone marrow failure (BMF) related to hypoplasia of hematopoietic elements in the bone
marrow is a heterogeneous clinical entity with a broad differential diagnosis including both …

Introduction: Hax-1, the hematopoietic cell-specific protein-associated protein X-1, is an
inhibitor of apoptosis, which has been implicated in severe congenital neutropenia (SCN) …

Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease. Different
genes are found to be associated with SCN, including ELA2, HAX1, WAS, GFI1, G-CSFR …

Autosomal recessive severe congenital neutropenia (SCN) results from a maturation arrest
of granulopoiesis at the level of promyelocytes and apoptosis of myeloid cells. In SCN …

We read with interest the recent perspective article by Klein. 1 Genetic analysis in
individuals with severe congenital neutropenia (SCN) indicates that 60% of cases were …

Severe congenital neutropenia (SCN) is a rare disease, comprising a heterogeneous group
of inherited disorders. Clinical features include reduced absolute neutrophil counts from …