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Chronic granulomatous disease

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
Synonyms: Chronic Granulomatous Disease; Chronic Granulomatous Diseases; Granulomatous Disease, Chronic; Granulomatous Diseases, Chronic
SNOMED CT: Chronic granulomatous disease (387759001); Congenital dysphagocytosis (387759001); CGD - Chronic granulomatous disease (387759001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Related genes: NCF1, NCF4, NCF2, CYBB, CYBA
 
Monarch Initiative: MONDO:0018305
OMIM® Phenotypic series: PS306400
Orphanet: ORPHA379

Definition

A rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. [from ORDO]

Professional guidelines

PubMed

Fernandez-Boyanapalli RF, Falcone EL, Zerbe CS, Marciano BE, Frasch SC, Henson PM, Holland SM, Bratton DL
J Allergy Clin Immunol 2015 Nov;136(5):1399-1401.e3. Epub 2015 Sep 18 doi: 10.1016/j.jaci.2015.07.034. PMID: 26386811Free PMC Article
Eichelmann K, González González SE, Salas-Alanis JC, Ocampo-Candiani J
Actas Dermosifiliogr 2013 Sep;104(7):554-63. Epub 2013 Jul 17 doi: 10.1016/j.adengl.2012.03.028. PMID: 23870850
Gallin JI, Farber JM, Holland SM, Nutman TB
Ann Intern Med 1995 Aug 1;123(3):216-24. doi: 10.7326/0003-4819-123-3-199508010-00009. PMID: 7598304

Recent clinical studies

Etiology

Arnold DE, Heimall JR
Adv Ther 2017 Dec;34(12):2543-2557. Epub 2017 Nov 22 doi: 10.1007/s12325-017-0636-2. PMID: 29168144Free PMC Article
Penn EB Jr, Goudy SL
Otolaryngol Clin North Am 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. PMID: 25439552
Dinauer MC, Orkin SH
Annu Rev Med 1992;43:117-24. doi: 10.1146/annurev.me.43.020192.001001. PMID: 1316094
Segal AW
Clin Exp Allergy 1991 Jan;21 Suppl 1:195-8. doi: 10.1111/j.1365-2222.1991.tb01727.x. PMID: 2032145
Curnutte JT, Babior BM
Adv Hum Genet 1987;16:229-97. doi: 10.1007/978-1-4757-0620-8_4. PMID: 3031956

Diagnosis

Yu HH, Yang YH, Chiang BL
Clin Rev Allergy Immunol 2021 Oct;61(2):101-113. doi: 10.1007/s12016-020-08800-x. PMID: 32524254
Arnold DE, Heimall JR
Adv Ther 2017 Dec;34(12):2543-2557. Epub 2017 Nov 22 doi: 10.1007/s12325-017-0636-2. PMID: 29168144Free PMC Article
Roos D
Br Med Bull 2016 Jun;118(1):50-63. Epub 2016 Mar 16 doi: 10.1093/bmb/ldw009. PMID: 26983962Free PMC Article
Goldblatt D, Thrasher AJ
Clin Exp Immunol 2000 Oct;122(1):1-9. doi: 10.1046/j.1365-2249.2000.01314.x. PMID: 11012609Free PMC Article
Johnston RB, Newman SL
Pediatr Clin North Am 1977 May;24(2):365-76. doi: 10.1016/s0031-3955(16)33424-1. PMID: 323805

Therapy

Robles-Marhuenda A, Álvarez-Troncoso J, Rodríguez-Pena R, Busca-Arenzana C, López-Granados E, Arnalich-Fernández F
Clin Immunol 2020 Feb;211:108323. Epub 2019 Dec 9 doi: 10.1016/j.clim.2019.108323. PMID: 31830531
Ghosh S, Gaspar HB
Hematol Oncol Clin North Am 2017 Oct;31(5):823-834. Epub 2017 Jun 29 doi: 10.1016/j.hoc.2017.05.003. PMID: 28895850
Dinauer MC, Orkin SH
Annu Rev Med 1992;43:117-24. doi: 10.1146/annurev.me.43.020192.001001. PMID: 1316094
Woodman RC, Curnutte JT
West J Med 1991 Apr;154(4):460. PMID: 1877191Free PMC Article
Johnston RB, Newman SL
Pediatr Clin North Am 1977 May;24(2):365-76. doi: 10.1016/s0031-3955(16)33424-1. PMID: 323805

Prognosis

Rawat A, Bhattad S, Singh S
Indian J Pediatr 2016 Apr;83(4):345-53. Epub 2016 Feb 11 doi: 10.1007/s12098-016-2040-3. PMID: 26865172
Penn EB Jr, Goudy SL
Otolaryngol Clin North Am 2015 Feb;48(1):137-51. doi: 10.1016/j.otc.2014.09.010. PMID: 25439552
Eichelmann K, González González SE, Salas-Alanis JC, Ocampo-Candiani J
Actas Dermosifiliogr 2013 Sep;104(7):554-63. Epub 2013 Jul 17 doi: 10.1016/j.adengl.2012.03.028. PMID: 23870850
Sneller MC
Am J Med Sci 2001 Jan;321(1):42-8. doi: 10.1097/00000441-200101000-00007. PMID: 11202479
Kamani NR, Infante AJ
Clin Rev Allergy Immunol 2000 Oct;19(2):141-56. doi: 10.1385/CRIAI:19:2:141. PMID: 11107499

Clinical prediction guides

Strickland E, Pan D, Godfrey C, Kim JS, Hopke A, Ji W, Degrange M, Villavicencio B, Mansour MK, Zerbe CS, Irimia D, Amir A, Weiner OD
Dev Cell 2024 Oct 7;59(19):2659-2671.e4. Epub 2024 Jul 5 doi: 10.1016/j.devcel.2024.06.003. PMID: 38971157Free PMC Article
Danne C, Skerniskyte J, Marteyn B, Sokol H
Nat Rev Gastroenterol Hepatol 2024 Mar;21(3):184-197. Epub 2023 Dec 18 doi: 10.1038/s41575-023-00871-3. PMID: 38110547
Grenier PA, Brun AL, Longchampt E, Lipski M, Mellot F, Catherinot E
Eur Radiol 2024 Jun;34(6):4142-4154. Epub 2023 Nov 8 doi: 10.1007/s00330-023-10334-7. PMID: 37935849Free PMC Article
Lood C, Blanco LP, Purmalek MM, Carmona-Rivera C, De Ravin SS, Smith CK, Malech HL, Ledbetter JA, Elkon KB, Kaplan MJ
Nat Med 2016 Feb;22(2):146-53. Epub 2016 Jan 18 doi: 10.1038/nm.4027. PMID: 26779811Free PMC Article
Armstrong-James D, Harrison TS
Curr Opin Microbiol 2012 Aug;15(4):434-9. Epub 2012 Aug 10 doi: 10.1016/j.mib.2012.06.001. PMID: 22884572

Recent systematic reviews

Lugo Reyes SO, González Garay A, González Bobadilla NY, Rivera Lizárraga DA, Madrigal Paz AC, Medina-Torres EA, Álvarez Cardona A, Galindo Ortega JL, Solís Galicia C, Espinosa-Padilla SE, Murata C
J Clin Immunol 2023 Apr;43(3):578-584. Epub 2022 Nov 16 doi: 10.1007/s10875-022-01391-6. PMID: 36385358
Hochhegger B, Zanon M, Altmayer S, Mandelli NS, Stüker G, Mohammed TL, Verma N, Meirelles GSP, Marchiori E
Br J Radiol 2021 Feb 1;94(1118):20200703. Epub 2020 Dec 9 doi: 10.1259/bjr.20200703. PMID: 33296607Free PMC Article
Terrington DL, Hayton C, Peel A, Fowler SJ, Fraser W, Wilson AM
J Breath Res 2019 Jun 24;13(3):036015. doi: 10.1088/1752-7163/ab1284. PMID: 30901768
Loffredo L, Perri L, Zicari AM, Del Ben M, Angelico F, Violi F
Ann Allergy Asthma Immunol 2016 Sep;117(3):285-9. doi: 10.1016/j.anai.2016.07.008. PMID: 27613462
Dotis J, Pana ZD, Roilides E
Mycoses 2013 Jul;56(4):449-62. Epub 2013 Feb 1 doi: 10.1111/myc.12049. PMID: 23369076

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