| H00098 | |
| H number | H00098 |
| Name | Chronic granulomatous disease |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Interferon gamma-1b [DR:D00747] |
| Comment | - |
| Other DBs | ICD-11: 4A00.0Y ICD-10: D71 MeSH: D006105 OMIM: 306400 233700 233710 613960 233690 618935 |
| Reference | PMID:17162365 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 PMID:9737224 AUTHORS Ten RM. TITLE Primary immunodeficiencies. JOURNAL Mayo Clin Proc 73:865-72 (1998) DOI:10.4065/73.9.865 PMID:15096561 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 PMID:18424339 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 PMID:17952897 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 PMID:18217895 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 PMID:16880254 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 PMID:30361506 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 |