Cyclic Neutropenia

Description

Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

Clinical Features

• Anemia
• Fatigue
• Thrombocytopenia
• Recurrent respiratory infections
• Abdominal pain
• Leukemia
• Carious teeth
• Lymphadenopathy
• Neutropenia
• Sepsis

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