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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.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
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

Pulmonary Sarcoidosis: Diagnosis and Treatment.
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
Leprosy. An update: definition, pathogenesis, classification, diagnosis, and treatment.
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
Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency.
Agarwal S, Mayer L
Clin Gastroenterol Hepatol 2013 Sep;11(9):1050-63. Epub 2013 Mar 13 doi: 10.1016/j.cgh.2013.02.024. PMID: 23501398Free PMC Article

Recent clinical studies

Etiology

Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.
Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, Schulz A, Hoenig M, Hauck F, Al Seraihy A, Gozdzik J, Ljungman P, Lindemans CA, Fernandes JF, Kalwak K, Strahm B, Schanz U, Sedlacek P, Sykora KW, Aksoylar S, Locatelli F, Stepensky P, Wynn R, Lum SH, Zecca M, Porta F, Taskinen M, Gibson B, Matthes S, Karakukcu M, Hauri-Hohl M, Veys P, Gennery AR, Lucchini G, Felber M, Albert MH, Balashov D, Lankester A, Güngör T, Slatter MA
Blood 2020 Sep 3;136(10):1201-1211. doi: 10.1182/blood.2020005590. PMID: 32614953
A Review of Chronic Granulomatous Disease.
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
Chronic Granulomatous Disease.
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
Pediatric inflammatory adenopathy.
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
Chronic granulomatous disease.
Dinauer MC, Orkin SH
Annu Rev Med 1992;43:117-24. doi: 10.1146/annurev.me.43.020192.001001. PMID: 1316094

Diagnosis

Chronic Granulomatous Disease: a Comprehensive Review.
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
Chronic Granulomatous Disease.
Roos D
Methods Mol Biol 2019;1982:531-542. doi: 10.1007/978-1-4939-9424-3_32. PMID: 31172494
A Review of Chronic Granulomatous Disease.
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
Chronic granulomatous disease.
Roos D
Br Med Bull 2016 Jun;118(1):50-63. Epub 2016 Mar 16 doi: 10.1093/bmb/ldw009. PMID: 26983962Free PMC Article
Chronic Granulomatous Disease.
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

Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
Progress in treating chronic granulomatous disease.
Gennery AR
Br J Haematol 2021 Jan;192(2):251-264. Epub 2020 Jul 8 doi: 10.1111/bjh.16939. PMID: 32643199
Recent Advances in Gene Therapy and Modeling of Chronic Granulomatous Disease.
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
Chronic granulomatous disease.
Holland SM
Clin Rev Allergy Immunol 2010 Feb;38(1):3-10. doi: 10.1007/s12016-009-8136-z. PMID: 19504359
Chronic granulomatous disease.
Dinauer MC, Orkin SH
Annu Rev Med 1992;43:117-24. doi: 10.1146/annurev.me.43.020192.001001. PMID: 1316094

Prognosis

Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults.
Chiesa R, Wang J, Blok HJ, Hazelaar S, Neven B, Moshous D, Schulz A, Hoenig M, Hauck F, Al Seraihy A, Gozdzik J, Ljungman P, Lindemans CA, Fernandes JF, Kalwak K, Strahm B, Schanz U, Sedlacek P, Sykora KW, Aksoylar S, Locatelli F, Stepensky P, Wynn R, Lum SH, Zecca M, Porta F, Taskinen M, Gibson B, Matthes S, Karakukcu M, Hauri-Hohl M, Veys P, Gennery AR, Lucchini G, Felber M, Albert MH, Balashov D, Lankester A, Güngör T, Slatter MA
Blood 2020 Sep 3;136(10):1201-1211. doi: 10.1182/blood.2020005590. PMID: 32614953
NOX2-dependent regulation of inflammation.
Singel KL, Segal BH
Clin Sci (Lond) 2016 Apr 1;130(7):479-90. doi: 10.1042/CS20150660. PMID: 26888560Free PMC Article
Chronic Granulomatous Disease.
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
Leprosy. An update: definition, pathogenesis, classification, diagnosis, and treatment.
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

Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy.
Sobrino S, Magnani A, Semeraro M, Martignetti L, Cortal A, Denis A, Couzin C, Picard C, Bustamante J, Magrin E, Joseph L, Roudaut C, Gabrion A, Soheili T, Cordier C, Lortholary O, Lefrere F, Rieux-Laucat F, Casanova JL, Bodard S, Boddaert N, Thrasher AJ, Touzot F, Taque S, Suarez F, Marcais A, Guilloux A, Lagresle-Peyrou C, Galy A, Rausell A, Blanche S, Cavazzana M, Six E
Cell Rep Med 2023 Feb 21;4(2):100919. Epub 2023 Jan 26 doi: 10.1016/j.xcrm.2023.100919. PMID: 36706754Free PMC Article
S100A8/A9 Is a Marker for the Release of Neutrophil Extracellular Traps and Induces Neutrophil Activation.
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
NOX2-dependent regulation of inflammation.
Singel KL, Segal BH
Clin Sci (Lond) 2016 Apr 1;130(7):479-90. doi: 10.1042/CS20150660. PMID: 26888560Free PMC Article
Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease.
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
Chronic granulomatous disease.
Heyworth PG, Cross AR, Curnutte JT
Curr Opin Immunol 2003 Oct;15(5):578-84. doi: 10.1016/s0952-7915(03)00109-2. PMID: 14499268

Recent systematic reviews

Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis.
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
The role of measuring exhaled breath biomarkers in sarcoidosis: a systematic review.
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
Chronic granulomatous disease as an SOS call for multicenter cooperative effort to prevent infections: A meta-analysis of the treatments.
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
Non-Aspergillus fungal infections in chronic granulomatous disease.
Dotis J, Pana ZD, Roilides E
Mycoses 2013 Jul;56(4):449-62. Epub 2013 Feb 1 doi: 10.1111/myc.12049. PMID: 23369076
Osteomyelitis due to Aspergillus species in chronic granulomatous disease: an update of the literature.
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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