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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

Lanini LL, Prader S, Siler U, Reichenbach J
Pediatr Allergy Immunol 2017 Mar;28(2):124-134. Epub 2016 Oct 13 doi: 10.1111/pai.12654. PMID: 27612320
Carmona EM, Kalra S, Ryu JH
Mayo Clin Proc 2016 Jul;91(7):946-54. doi: 10.1016/j.mayocp.2016.03.004. PMID: 27378039
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

Recent clinical studies

Etiology

Henrickson SE, Jongco AM, Thomsen KF, Garabedian EK, Thomsen IP
J Pediatric Infect Dis Soc 2018 May 9;7(suppl_1):S18-S24. doi: 10.1093/jpids/piy014. PMID: 29746679Free PMC Article
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
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
Chiriaco M, Salfa I, Di Matteo G, Rossi P, Finocchi A
Pediatr Allergy Immunol 2016 May;27(3):242-53. Epub 2016 Jan 21 doi: 10.1111/pai.12527. PMID: 26680691
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

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
Roos D
Methods Mol Biol 2019;1982:531-542. doi: 10.1007/978-1-4939-9424-3_32. PMID: 31172494
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
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

Therapy

Yang AH, Sullivan B, Zerbe CS, De Ravin SS, Blakely AM, Quezado MM, Marciano BE, Marko J, Ling A, Kleiner DE, Gallin JI, Malech HL, Holland SM, Heller T
J Allergy Clin Immunol Pract 2023 May;11(5):1401-1416. Epub 2023 Jan 13 doi: 10.1016/j.jaip.2022.12.039. PMID: 36646382
Gennery AR
Br J Haematol 2021 Jan;192(2):251-264. Epub 2020 Jul 8 doi: 10.1111/bjh.16939. PMID: 32643199
Jafarian A, Shokri G, Shokrollahi Barough M, Moin M, Pourpak Z, Soleimani M
Iran J Allergy Asthma Immunol 2019 Apr 1;18(2):131-142. PMID: 31066249
Chiriaco M, Salfa I, Di Matteo G, Rossi P, Finocchi A
Pediatr Allergy Immunol 2016 May;27(3):242-53. Epub 2016 Jan 21 doi: 10.1111/pai.12527. PMID: 26680691
Holland SM
Clin Rev Allergy Immunol 2010 Feb;38(1):3-10. doi: 10.1007/s12016-009-8136-z. PMID: 19504359

Prognosis

Varghese L, Kurien R, Susheel S, Cherian LM, Rebekah G, Rupa V
Mycoses 2021 Dec;64(12):1471-1479. Epub 2021 Oct 28 doi: 10.1111/myc.13381. PMID: 34657340
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
Wessendorf TE, Bonella F, Costabel U
Clin Rev Allergy Immunol 2015 Aug;49(1):54-62. doi: 10.1007/s12016-015-8475-x. PMID: 25779004
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

Clinical prediction guides

Chandrasekaran P, Han Y, Zerbe CS, Heller T, DeRavin SS, Kreuzberg SA, Marciano BE, Siu Y, Jones DR, Abraham RS, Stephens MC, Tsou AM, Snapper S, Conlan S, Subramanian P, Quinones M, Grou C, Calderon V, Deming C, Leiding JW, Arnold DE, Logan BR, Griffith LM, Petrovic A, Mousallem TI, Kapoor N, Heimall JR, Barnum JL, Kapadia M, Wright N, Rayes A, Chandra S, Broglie LA, Chellapandian D, Deal CL, Grunebaum E, Lim SS, Mallhi K, Marsh RA, Murguia-Favela L, Parikh S, Touzot F, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Kang EM, Malech HL, Segre JA, Bryant CE, Holland SM, Falcone EL
J Allergy Clin Immunol 2023 Dec;152(6):1619-1633.e11. Epub 2023 Sep 1 doi: 10.1016/j.jaci.2023.07.022. PMID: 37659505
Sprenkeler EGG, Zandstra J, van Kleef ND, Goetschalckx I, Verstegen B, Aarts CEM, Janssen H, Tool ATJ, van Mierlo G, van Bruggen R, Jongerius I, Kuijpers TW
Cells 2022 Jan 11;11(2) doi: 10.3390/cells11020236. PMID: 35053354Free PMC Article
Varghese L, Kurien R, Susheel S, Cherian LM, Rebekah G, Rupa V
Mycoses 2021 Dec;64(12):1471-1479. Epub 2021 Oct 28 doi: 10.1111/myc.13381. PMID: 34657340
Kanariou M, Spanou K, Tantou S
Curr Opin Hematol 2018 Jan;25(1):7-12. doi: 10.1097/MOH.0000000000000396. PMID: 29135572
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

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
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
Dotis J, Roilides E
Mycoses 2011 Nov;54(6):e686-96. Epub 2011 May 25 doi: 10.1111/j.1439-0507.2010.02001.x. PMID: 21615532

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