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.
 
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

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
Toscano MG, Romero Z, Muñoz P, Cobo M, Benabdellah K, Martin F
Gene Ther 2011 Feb;18(2):117-27. Epub 2010 Oct 21 doi: 10.1038/gt.2010.138. PMID: 20962871
Seger RA
Neth J Med 2010 Nov;68(11):334-40. PMID: 21116026

Recent clinical studies

Etiology

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
Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM
J Allergy Clin Immunol 2018 Jan;141(1):365-371. Epub 2017 May 18 doi: 10.1016/j.jaci.2017.04.035. PMID: 28528201
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
Bassiri-Jahromi S, Doostkam A
J Mycol Med 2012 Mar;22(1):52-7. Epub 2012 Feb 22 doi: 10.1016/j.mycmed.2011.12.079. PMID: 23177814

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
Kutluğ Ş, Şensoy G, Birinci A, Saraymen B, Yavuz Köker M, Yιldιran A
Asian Pac J Allergy Immunol 2018 Mar;36(1):35-41. doi: 10.12932/AP0859. PMID: 28577521
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

Therapy

Sekar A, Gupta A, Rawat A, Rudramurthy SM, Kumar R, Bhatia A
Indian Pediatr 2021 Nov 15;58(11):1067-1073. PMID: 34837368
Martín-Nalda A, Roca I, Fontecha CG, Fernández-Polo A, Barber I, Martinez-Gallo M, Soler-Palacin P
Pediatrics 2016 Aug;138(2) Epub 2016 Jul 19 doi: 10.1542/peds.2015-4017. PMID: 27436506
Kaufmann KB, Chiriaco M, Siler U, Finocchi A, Reichenbach J, Stein S, Grez M
Curr Gene Ther 2014;14(6):447-60. doi: 10.2174/1566523214666140918113201. PMID: 25245086
Kang EM, Malech HL
Methods Enzymol 2012;507:125-54. doi: 10.1016/B978-0-12-386509-0.00007-7. PMID: 22365772
Holman DM, Kalaaji AN
J Drugs Dermatol 2006 Jun;5(6):520-4. PMID: 16774103

Prognosis

Sekar A, Gupta A, Rawat A, Rudramurthy SM, Kumar R, Bhatia A
Indian Pediatr 2021 Nov 15;58(11):1067-1073. PMID: 34837368
Marsh RA, Leiding JW, Logan BR, Griffith LM, Arnold DE, Haddad E, Falcone EL, Yin Z, Patel K, Arbuckle E, Bleesing JJ, Sullivan KE, Heimall J, Burroughs LM, Skoda-Smith S, Chandrakasan S, Yu LC, Oshrine BR, Cuvelier GDE, Thakar MS, Chen K, Teira P, Shenoy S, Phelan R, Forbes LR, Chellapandian D, Dávila Saldaña BJ, Shah AJ, Weinacht KG, Joshi A, Boulad F, Quigg TC, Dvorak CC, Grossman D, Torgerson T, Graham P, Prasad V, Knutsen A, Chong H, Miller H, de la Morena MT, DeSantes K, Cowan MJ, Notarangelo LD, Kohn DB, Stenger E, Pai SY, Routes JM, Puck JM, Kapoor N, Pulsipher MA, Malech HL, Parikh S, Kang EM; submitted on behalf of the Primary Immune Deficiency Treatment Consortium
J Clin Immunol 2019 Oct;39(7):653-667. Epub 2019 Aug 2 doi: 10.1007/s10875-019-00659-8. PMID: 31376032Free PMC Article
Singel KL, Segal BH
Clin Sci (Lond) 2016 Apr 1;130(7):479-90. doi: 10.1042/CS20150660. PMID: 26888560Free PMC Article
Roos D, de Boer M
Clin Exp Immunol 2014 Feb;175(2):139-49. doi: 10.1111/cei.12202. PMID: 24016250Free 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

Clinical prediction guides

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
Singel KL, Segal BH
Clin Sci (Lond) 2016 Apr 1;130(7):479-90. doi: 10.1042/CS20150660. PMID: 26888560Free 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
Cachat J, Deffert C, Hugues S, Krause KH
Clin Sci (Lond) 2015 May 1;128(10):635-48. doi: 10.1042/CS20140635. PMID: 25760962
Sibley CT, Estwick T, Zavodni A, Huang CY, Kwan AC, Soule BP, Long Priel DA, Remaley AT, Rudman Spergel AK, Turkbey EB, Kuhns DB, Holland SM, Malech HL, Zarember KA, Bluemke DA, Gallin JI
Circulation 2014 Dec 2;130(23):2031-9. Epub 2014 Sep 19 doi: 10.1161/CIRCULATIONAHA.113.006824. PMID: 25239440Free 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
Ziaei H, Tonkaboni A, Shamshiri A, Rezaei N
Clin Immunol 2021 Aug;229:108796. Epub 2021 Jul 14 doi: 10.1016/j.clim.2021.108796. PMID: 34271191
Colombier MA, Alanio A, Denis B, Melica G, Garcia-Hermoso D, Levy B, Peraldi MN, Glotz D, Bretagne S, Gallien S
J Clin Microbiol 2015 Jul;53(7):2084-94. Epub 2015 Apr 22 doi: 10.1128/JCM.00295-15. PMID: 25903573Free PMC Article
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

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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...