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Chronic granulomatous disease

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
Synonyms: autosomal; Granulomatous Disease, Chronic
SNOMED CT: Chronic granulomatous disease (387759001); Congenital dysphagocytosis (387759001); CGD - Chronic granulomatous disease (387759001); Congenital dysphagocytosis (191352003)
 
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

Haidar ZA, Malshe A, McKenna D
Obstet Gynecol 2014 Feb;123(2 Pt 2 Suppl 2):484-6. doi: 10.1097/AOG.0000000000000097. PMID: 24413246
Kepenekli E, Soysal A, Kuzdan C, Ermerak NO, Yüksel M, Bakır M
Ital J Pediatr 2014 Jan 8;40:2. doi: 10.1186/1824-7288-40-2. [Epub ahead of print] PMID: 24401677Free PMC Article
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. [Epub ahead of print] PMID: 24276928
Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation
Lancet 2014 Feb 1;383(9915):436-48. Epub 2013 Oct 23 doi: 10.1016/S0140-6736(13)62069-3. [Epub ahead of print] PMID: 24161820
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

Diagnosis

Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA
J Clin Immunol 2014 May;34(4):452-8. Epub 2014 Mar 5 doi: 10.1007/s10875-014-9997-3. [Epub ahead of print] PMID: 24596025
Haidar ZA, Malshe A, McKenna D
Obstet Gynecol 2014 Feb;123(2 Pt 2 Suppl 2):484-6. doi: 10.1097/AOG.0000000000000097. PMID: 24413246
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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23910690
Kim HY, Kim HJ, Ki CS, Kim DW, Yoo KH, Kang ES
Ann Lab Med 2013 Jul;33(4):288-92. Epub 2013 Jun 24 doi: 10.3343/alm.2013.33.4.288. PMID: 23826567Free PMC Article

Therapy

Saito S, Oda A, Kasai M, Minami K, Nagumo H, Shiohara M, Ogiso Y, Kawakami Y
J Infect Chemother 2014 Mar;20(3):220-3. Epub 2013 Dec 11 doi: 10.1016/j.jiac.2013.10.008. [Epub ahead of print] PMID: 24674387
Turegano MM, Lee CC, Malech HL, De Ravin SS, Cowen EW, Brownell I
J Am Acad Dermatol 2014 Mar;70(3):576-80. doi: 10.1016/j.jaad.2013.09.051. PMID: 24528905Free PMC Article
Kepenekli E, Soysal A, Kuzdan C, Ermerak NO, Yüksel M, Bakır M
Ital J Pediatr 2014 Jan 8;40:2. doi: 10.1186/1824-7288-40-2. [Epub ahead of print] PMID: 24401677Free PMC Article
Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation
Lancet 2014 Feb 1;383(9915):436-48. Epub 2013 Oct 23 doi: 10.1016/S0140-6736(13)62069-3. [Epub ahead of print] PMID: 24161820
Akagi K, Kawai T, Watanabe N, Yokoyama M, Arai K, Harayama S, Oana S, Onodera M
J Pediatr Hematol Oncol 2014 Apr;36(3):e169-72. doi: 10.1097/MPH.0b013e31828e5dae. PMID: 23652865

Prognosis

Turegano MM, Lee CC, Malech HL, De Ravin SS, Cowen EW, Brownell I
J Am Acad Dermatol 2014 Mar;70(3):576-80. doi: 10.1016/j.jaad.2013.09.051. PMID: 24528905Free PMC Article
Kepenekli E, Soysal A, Kuzdan C, Ermerak NO, Yüksel M, Bakır M
Ital J Pediatr 2014 Jan 8;40:2. doi: 10.1186/1824-7288-40-2. [Epub ahead of print] PMID: 24401677Free PMC Article
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. [Epub ahead of print] PMID: 24276928
Akagi K, Kawai T, Watanabe N, Yokoyama M, Arai K, Harayama S, Oana S, Onodera M
J Pediatr Hematol Oncol 2014 Apr;36(3):e169-72. doi: 10.1097/MPH.0b013e31828e5dae. PMID: 23652865
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. [Epub ahead of print] PMID: 23910690

Clinical prediction guides

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. [Epub ahead of print] PMID: 24276928
Alimchandani M, Lai JP, Aung PP, Khangura S, Kamal N, Gallin JI, Holland SM, Malech HL, Heller T, Miettinen M, Quezado MM
Am J Surg Pathol 2013 Sep;37(9):1365-72. doi: 10.1097/PAS.0b013e318297427d. PMID: 23887163Free PMC Article
Cole T, Pearce MS, Cant AJ, Cale CM, Goldblatt D, Gennery AR
J Allergy Clin Immunol 2013 Nov;132(5):1150-5. Epub 2013 Jul 16 doi: 10.1016/j.jaci.2013.05.031. [Epub ahead of print] PMID: 23870668
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. [Epub ahead of print] PMID: 23688784
Henriet SS, Jans J, Simonetti E, Kwon-Chung KJ, Rijs AJ, Hermans PW, Holland SM, de Jonge MI, Warris A
J Infect Dis 2013 Jun 15;207(12):1932-9. Epub 2013 Mar 12 doi: 10.1093/infdis/jit103. [Epub ahead of print] PMID: 23482646

Recent systematic reviews

Smith NL, Denning DW
Immunology 2014 Dec;143(4):499-511. doi: 10.1111/imm.12362. PMID: 25052001Free 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 21615532

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