Format

Send to:

Choose Destination

Links from PubMed

Chronic granulomatous disease

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
Synonyms: Chronic Granulomatous Disease; Chronic Granulomatous Diseases; Disease, Chronic Granulomatous; Diseases, Chronic Granulomatous; Granulomatous Disease, Chronic; Granulomatous Diseases, Chronic
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the 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
Sources: HPO, OMIM, 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.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Chronic granulomatous disease (387759001); Congenital dysphagocytosis (387759001); CGD - Chronic granulomatous disease (387759001); Congenital dysphagocytosis (191352003)
 
Related genes: NCF1, NCF4, NCF2, CYBB, CYBA
Orphanet: ORPHA379

Definition

A defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. When chronic granulomatous disease is caused by mutations in the CYBB gene, the condition is inherited in an X-linked recessive pattern. When chronic granulomatous disease is caused by CYBA, NCF1, NCF2, or NCF4 gene mutations, the condition is inherited in an autosomal recessive pattern. [from MeSH]

Recent clinical studies

Etiology

Wu J, Wang WF, Zhang YD, Chen TX
J Immunol Res 2017;2017:8745254. Epub 2017 Jan 30 doi: 10.1155/2017/8745254. PMID: 28251166Free 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
El Hawary R, Meshaal S, Nagy D, Fikry I, Alkady R, Abd Elaziz D, Galal N, Boutros J, Elmarsafy A, Jan Farid R
J Recept Signal Transduct Res 2015;35(5):423-8. Epub 2015 Mar 23 doi: 10.3109/10799893.2014.996818. PMID: 25798665
Berrón-Ruiz L, Morín-Contreras A, Cano-García V, Yamazaki-Nakashimada MA, Gómez-Tello H, Vargas-Camaño ME, Canseco-Raymundo R, Saracho-Weber F, Pietropaolo-Cienfuegos D, Del Río-Navarro B, Staines-Boone T, Espinosa-Rosales F, González-Del Ángel A, Saenz-de-Ocaris MM, Pacheco-Rosas D, Espinosa-Padilla S, Santos-Argumedo L, Blancas-Galicia L
Allergol Immunopathol (Madr) 2014 Nov-Dec;42(6):580-5. Epub 2014 Jun 2 doi: 10.1016/j.aller.2013.07.014. PMID: 24890515

Diagnosis

Saleem N, Ahmed TA, Bashir M
J Pak Med Assoc 2016 Jan;66(1):97-100. PMID: 26712191
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
Broides A, Sagi O, Pinsk V, Levy J, Yerushalmi B
Immunol Res 2016 Feb;64(1):155-9. doi: 10.1007/s12026-015-8733-2. PMID: 26603166
Valentine G, Thomas TA, Nguyen T, Lai YC
Pediatrics 2014 Dec;134(6):e1727-30. doi: 10.1542/peds.2014-2175. PMID: 25422023
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D
J Allergy Clin Immunol 2013 Nov;132(5):1156-1163.e5. Epub 2013 Jul 31 doi: 10.1016/j.jaci.2013.05.039. PMID: 23910690

Therapy

Wu J, Wang WF, Zhang YD, Chen TX
J Immunol Res 2017;2017:8745254. Epub 2017 Jan 30 doi: 10.1155/2017/8745254. PMID: 28251166Free PMC Article
Haidar G, Zerbe CS, Cheng M, Zelazny AM, Holland SM, Sheridan KR
Mycoses 2017 Mar;60(3):155-160. Epub 2016 Oct 26 doi: 10.1111/myc.12573. PMID: 27781311
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
de Oliveira-Junior EB, Zurro NB, Prando C, Cabral-Marques O, Pereira PV, Schimke LF, Klaver S, Buzolin M, Blancas-Galicia L, Santos-Argumedo L, Pietropaolo-Cienfuegos DR, Espinosa-Rosales F, King A, Sorensen R, Porras O, Roxo-Junior P, Forte WC, Orellana JC, Lozano A, Galicchio M, Regairaz L, Grumach AS, Costa-Carvalho BT, Bustamante J, Bezrodnik L, Oleastro M, Danielian S, Condino-Neto A
Pediatr Blood Cancer 2015 Dec;62(12):2101-7. Epub 2015 Jul 15 doi: 10.1002/pbc.25674. PMID: 26185101
Valentine G, Thomas TA, Nguyen T, Lai YC
Pediatrics 2014 Dec;134(6):e1727-30. doi: 10.1542/peds.2014-2175. PMID: 25422023

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
Broides A, Sagi O, Pinsk V, Levy J, Yerushalmi B
Immunol Res 2016 Feb;64(1):155-9. doi: 10.1007/s12026-015-8733-2. PMID: 26603166
Magnani A, Brosselin P, Beauté J, de Vergnes N, Mouy R, Debré M, Suarez F, Hermine O, Lortholary O, Blanche S, Fischer A, Mahlaoui N
J Allergy Clin Immunol 2014 Sep;134(3):655-662.e8. Epub 2014 Jun 27 doi: 10.1016/j.jaci.2014.04.014. PMID: 24985400
Rawat A, Singh S, Suri D, Gupta A, Saikia B, Minz RW, Sehgal S, Vaiphei K, Kamae C, Honma K, Nakagawa N, Imai K, Nonoyama S, Oshima K, Mitsuiki N, Ohara O, Chan KW, Lau YL
J Clin Immunol 2014 Jan;34(1):58-67. Epub 2013 Nov 26 doi: 10.1007/s10875-013-9963-5. PMID: 24276928
Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D
J Allergy Clin Immunol 2013 Nov;132(5):1156-1163.e5. Epub 2013 Jul 31 doi: 10.1016/j.jaci.2013.05.039. PMID: 23910690

Clinical prediction guides

Wu J, Wang WF, Zhang YD, Chen TX
J Immunol Res 2017;2017:8745254. Epub 2017 Jan 30 doi: 10.1155/2017/8745254. PMID: 28251166Free PMC Article
Broides A, Sagi O, Pinsk V, Levy J, Yerushalmi B
Immunol Res 2016 Feb;64(1):155-9. doi: 10.1007/s12026-015-8733-2. PMID: 26603166
Cotugno N, Finocchi A, Cagigi A, Di Matteo G, Chiriaco M, Di Cesare S, Rossi P, Aiuti A, Palma P, Douagi I
J Allergy Clin Immunol 2015 Mar;135(3):753-61.e2. Epub 2014 Aug 29 doi: 10.1016/j.jaci.2014.07.012. PMID: 25175493
Valentine G, Thomas TA, Nguyen T, Lai YC
Pediatrics 2014 Dec;134(6):e1727-30. doi: 10.1542/peds.2014-2175. PMID: 25422023
Hayrapetyan A, Dencher PC, van Leeuwen K, de Boer M, Roos D
Biochim Biophys Acta 2013 Oct;1832(10):1662-72. Epub 2013 May 18 doi: 10.1016/j.bbadis.2013.05.001. PMID: 23688784

Recent systematic reviews

O'Neill S, Brault J, Stasia MJ, Knaus UG
Redox Biol 2015 Dec;6:135-56. Epub 2015 Jul 17 doi: 10.1016/j.redox.2015.07.009. PMID: 26210446Free PMC Article
Henriet S, Verweij PE, Holland SM, Warris A
Adv Exp Med Biol 2013;764:27-55. PMID: 23654055
Alvarez-Downing MM, Kamal N, Inchauste SM, Khangura SK, Malech HL, Holland SM, Hughes MS, Heller T, Sherry RM
Dis Colon Rectum 2013 May;56(5):609-14. doi: 10.1097/DCR.0b013e3182781504. PMID: 23575400Free 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center