U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Genotype, oxidase status, and preceding infection or autoinflammation do not affect allogeneic HCT outcomes for CGD.
Leiding JW, Arnold DE, Parikh S, Logan B, Marsh RA, Griffith LM, Wu R, Kidd S, Mallhi K, Chellapandian D, Si Lim SJ, Grunebaum E, Falcone EL, Murguia-Favela L, Grossman D, Prasad VK, Heimall JR, Touzot F, Burroughs LM, Bleesing J, Kapoor N, Dara J, Williams O, Kapadia M, Oshrine BR, Bednarski JJ, Rayes A, Chong H, Cuvelier GDE, Forbes Satter LR, Martinez C, Vander Lugt MT, Yu LC, Chandrakasan S, Joshi A, Prockop SE, Dávila Saldaña BJ, Aquino V, Broglie LA, Ebens CL, Madden LM, DeSantes K, Milner J, Rangarajan HG, Shah AJ, Gillio AP, Knutsen AP, Miller HK, Moore TB, Graham P, Bauchat A, Bunin NJ, Teira P, Petrovic A, Chandra S, Abdel-Azim H, Dorsey MJ, Birbrayer O, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM
Blood 2023 Dec 14;142(24):2105-2118. doi: 10.1182/blood.2022019586. PMID: 37562003Free PMC Article
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

Recent clinical studies

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
Chronic granulomatous disease: Clinical, molecular, and therapeutic aspects.
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
Chronic granulomatous disease.
Holland SM
Clin Rev Allergy Immunol 2010 Feb;38(1):3-10. doi: 10.1007/s12016-009-8136-z. PMID: 19504359
Cytokines in dermatology.
Holman DM, Kalaaji AN
J Drugs Dermatol 2006 Jun;5(6):520-4. PMID: 16774103

Prognosis

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
Diagnosis of Sarcoidosis.
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
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
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
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

Clinical prediction guides

Neutrophils: from IBD to the gut microbiota.
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
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
COVID-19 mimics on chest CT: a pictorial review and radiologic guide.
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...