KEGG DISEASE: Hereditary neutrophilia

KEGG

DISEASE: Hereditary neutrophilia

Entry

H02948                      Disease

Name

Hereditary neutrophilia

Description

Hereditary neutrophilia is a rare genetic immune disease characterized by chronic neutrophilia, increase in the percentage of circulating CD34+ cells in peripheral blood, increase in granulocyte precursors in bone marrow, and splenomegaly. It has been reported that an activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. CSF3R encodes the granulocyte colony-stimulating factor (G-CSF) receptor which is involved in the differentiation and proliferation of granulocytes.

Category

Immune system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Immune system disorders involving white cell lineages
   4B00  Disorders of neutrophil number
    H02948  Hereditary neutrophilia

Gene

CSF3R [HSA:1441] [KO:K05061]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Plo I, Zhang Y, Le Couedic JP, Nakatake M, Boulet JM, Itaya M, Smith SO, Debili N, Constantinescu SN, Vainchenker W, Louache F, de Botton S

Title

An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia.

Journal

J Exp Med 206:1701-7 (2009)
DOI:10.1084/jem.20090693

Reference

Authors

Hong WJ, Gotlib J

Title

Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Journal

Best Pract Res Clin Haematol 27:95-106 (2014)
DOI:10.1016/j.beha.2014.07.002

LinkDB

» Japanese version

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