KEGG   DISEASE: Neutropenic disorders
Entry
H00100                      Disease                                

Name
Neutropenic disorders
Description
Neutropenias represent a series of potentially life-threatening disorders characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections. Severe congenital neutropenia (SCN) is a rare neutropenia with a bone marrow maturation arrest of granulocytic differentiation. Kostmann syndrome is an autosomal recessive SCN. The characteristic maturation arrest and the lack of mature neutrophils in peripheral blood of patients with Kostmann syndrome can be explained by the deletion of an anti-apoptotic factor (HAX-1) in myeloid cells of these patients. Heterozygous mutations in the protooncogene growth factor-independent 1 (GFI1) gene are also associated with SCN. In patients with autosomal dominant cyclic neutropenia (CyN), a condition with oscillating neutrophil counts but less severe clinical symptoms, heterozygous mutations in ELA-2/ELANE were discovered. Patients with X-linked severe congenital neutropenia (SCN) have been reported with activating mutations in WASp leading to a constitutively-active form of the protein, and unregulated actin polymerization.
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00100  Neutropenic disorders
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
    H00100  Neutropenic disorders
Gene
HAX1 [HSA:10456] [KO:K16220]
GFI1 [HSA:2672] [KO:K09223]
ELA2 [HSA:1991] [KO:K01327]
WAS [HSA:7454] [KO:K05747]
Drug
Filgrastim [DR:D03235]
Pegfilgrastim [DR:D06889]
Other DBs
ICD-11: 4B00.0
ICD-10: D70
OMIM: 610738 613107 202700 300299
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
Reference
  Authors
Lim MS, Elenitoba-Johnson KS.
  Title
The molecular pathology of primary immunodeficiencies.
  Journal
J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X
Reference
  Authors
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  Title
Genetic diagnosis of primary immune deficiencies.
  Journal
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
Reference
  Authors
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  Title
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  Journal
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
Reference
  Authors
Rezaei N, Moazzami K, Aghamohammadi A, Klein C
  Title
Neutropenia and primary immunodeficiency diseases.
  Journal
Int Rev Immunol 28:335-66 (2009)
DOI:10.1080/08830180902995645
LinkDB

» Japanese version

DBGET integrated database retrieval system