KEGG   DISEASE: Chronic granulomatous disease
Entry
H00098                      Disease                                
Name
Chronic granulomatous disease
  Supergrp
Disorders of innate immunity [DS:H02525]
Primary immunodeficiency disease [DS:H01725]
Description
Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of four polypeptide subunits and mutations in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive (AR).
Category
Primary immunodeficiency
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H00098  Chronic granulomatous disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A00  Primary immunodeficiencies due to disorders of innate immunity
    H00098  Chronic granulomatous disease
Related
pathway
hsa04613  Neutrophil extracellular trap formation
hsa04670  Leukocyte transendothelial migration
hsa04145  Phagosome
hsa04666  Fc gamma R-mediated phagocytosis
Gene
(CGDX) CYBB [HSA:1536] [KO:K21421]
(CGD1) NCF1 [HSA:653361] [KO:K08011]
(CGD3) NCF2 [HSA:4688] [KO:K08010]
(CGD3) NCF4 [HSA:4689] [KO:K08012]
(CGD4) CYBA [HSA:1535] [KO:K08009]
(CGD5) CYBC1 [HSA:79415] [KO:K25863]
Drug
Interferon gamma-1b [DR:D00747]
Other DBs
ICD-11: 4A00.0Y
ICD-10: D71
MeSH: D006105
OMIM: 306400 233700 233710 613960 233690 618935
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
PMID:9737224
  Authors
Ten RM.
  Title
Primary immunodeficiencies.
  Journal
Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865
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
Seger RA
  Title
Modern management of chronic granulomatous disease.
  Journal
Br J Haematol 140:255-66 (2008)
DOI:10.1111/j.1365-2141.2007.06880.x
Reference
  Authors
Ellson CD, Davidson K, Ferguson GJ, O'Connor R, Stephens LR, Hawkins PT
  Title
Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing.
  Journal
J Exp Med 203:1927-37 (2006)
DOI:10.1084/jem.20052069
Reference
  Authors
Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, Bjarnadottir K, Theodors F, Benonisdottir S, Ivarsdottir EV, Oddsson A, Kristjansson RP, Sulem G, Alexandersson KF, Juliusdottir T, Gudmundsson KR, Saemundsdottir J, Jonasdottir A, Jonasdottir A, Sigurdsson A, Manzanillo P, Gudjonsson SA, Thorisson GA, Magnusson OT, Masson G, Orvar KB, Holm H, Bjornsson S, Arngrimsson R, Gudbjartsson DF, Thorsteinsdottir U, Jonsdottir I, Haraldsson A, Sulem P, Stefansson K
  Title
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease.
  Journal
Nat Commun 9:4447 (2018)
DOI:10.1038/s41467-018-06964-x
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