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Autosomal Recessive Chronic Granulomatous Disease

MedGen UID:
775724
•Concept ID:
C3661525
•
Disease or Syndrome

Professional guidelines

PubMed

Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A  Primary Immune Deficiency Treatment Consortium study.
Grunebaum E, Arnold DE, Logan B, Parikh S, Marsh RA, Griffith LM, Mallhi K, Chellapandian D, Lim SS, Deal CL, Kapoor N, Murguía-Favela L, Falcone EL, Prasad VK, Touzot F, Bleesing JJ, Chandrakasan S, Heimall JR, Bednarski JJ, Broglie LA, Chong HJ, Kapadia M, Prockop S, Dávila Saldaña BJ, Schaefer E, Bauchat AL, Teira P, Chandra S, Parta M, Cowan MJ, Dvorak CC, Haddad E, Kohn DB, Notarangelo LD, Pai SY, Puck JM, Pulsipher MA, Torgerson TR, Malech HL, Kang EM, Leiding JW
J Allergy Clin Immunol 2024 May;153(5):1423-1431.e2. Epub 2024 Jan 28 doi: 10.1016/j.jaci.2024.01.013. PMID: 38290608Free PMC Article
A fast and easy nitroblue tetrazolium method for carrier screening and prenatal detection of chronic granulomatous disease.
Ayatollahi M, Tabei Z, Ramzi M, Kashef S, Haghshenas M
Arch Iran Med 2006 Oct;9(4):335-8. PMID: 17061605

Recent clinical studies

Etiology

Dermacoccus nishinomiyaensis brain abscesses as the first manifestation of chronic granulomatous disease.
Triguy J, Tolin AL, Peña S, Ballester C, Gallardo Á, Aguilar Fixman MJ
Arch Argent Pediatr 2023 Aug 1;121(4):e202202804. Epub 2023 Feb 2 doi: 10.5546/aap.2022-02804.eng. PMID: 36705996
A fast and easy nitroblue tetrazolium method for carrier screening and prenatal detection of chronic granulomatous disease.
Ayatollahi M, Tabei Z, Ramzi M, Kashef S, Haghshenas M
Arch Iran Med 2006 Oct;9(4):335-8. PMID: 17061605
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS, Roos D
Am J Hum Genet 1992 Nov;51(5):1127-35. PMID: 1415254Free PMC Article
Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.
Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW
Proc Natl Acad Sci U S A 1991 Apr 1;88(7):2753-7. doi: 10.1073/pnas.88.7.2753. PMID: 2011585Free PMC Article
Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein.
Segal AW, Heyworth PG, Cockcroft S, Barrowman MM
Nature 1985 Aug 8-14;316(6028):547-9. doi: 10.1038/316547a0. PMID: 4033752

Diagnosis

Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.
Chiu TL, Leung D, Chan KW, Yeung HM, Wong CY, Mao H, He J, Vignesh P, Liang W, Liew WK, Jiang LP, Chen TX, Chen XY, Tao YB, Xu YB, Yu HH, Terblanche A, Lung DC, Li CR, Chen J, Tian M, Eley B, Yang X, Yang J, Chiang WC, Lee BW, Suri D, Rawat A, Gupta A, Singh S, Wong WHS, Chua GT, Duque JSDR, Cheong KN, Chong PC, Ho MH, Lee TL, Yang W, Lee PP, Lau YL
Front Immunol 2021;12:803763. Epub 2022 Jan 24 doi: 10.3389/fimmu.2021.803763. PMID: 35140711Free PMC Article
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Bazargan N, Movahedi M, Mahlouji Rad M, Mahdaviani SA, Mamishi S, Khotaei GT, Mansouri D, Zandieh F, Pourpak Z
Scand J Immunol 2019 Jul;90(1):e12767. Epub 2019 Apr 25 doi: 10.1111/sji.12767. PMID: 30963593
NCF1 (p47(phox))-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.
Kuhns DB, Hsu AP, Sun D, Lau K, Fink D, Griffith P, Huang DW, Priel DAL, Mendez L, Kreuzburg S, Zerbe CS, De Ravin SS, Malech HL, Holland SM, Wu X, Gallin JI
Blood Adv 2019 Jan 22;3(2):136-147. doi: 10.1182/bloodadvances.2018023184. PMID: 30651282Free PMC Article
An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection.
Mortaz E, Sarhifynia S, Marjani M, Moniri A, Mansouri D, Mehrian P, van Leeuwen K, Roos D, Garssen J, Adcock IM, Tabarsi P
BMC Infect Dis 2018 Nov 8;18(1):552. doi: 10.1186/s12879-018-3451-8. PMID: 30409207Free PMC Article
Autosomal recessive chronic granulomatous disease presenting with cutaneous dermatoses and ocular infection.
Low LC, Manson AL, Hardman C, Carton J, Seneviratne SL, Ninis N
Clin Exp Dermatol 2013 Apr;38(3):270-3. Epub 2012 May 21 doi: 10.1111/j.1365-2230.2012.04392.x. PMID: 22606957

Therapy

An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection.
Mortaz E, Sarhifynia S, Marjani M, Moniri A, Mansouri D, Mehrian P, van Leeuwen K, Roos D, Garssen J, Adcock IM, Tabarsi P
BMC Infect Dis 2018 Nov 8;18(1):552. doi: 10.1186/s12879-018-3451-8. PMID: 30409207Free PMC Article
Resistant invasive aspergillosis in an autosomal recessive chronic granulomatous disease.
Sfaihi L, Maaloul I, Fourati H, Stasia MJ, Mnif Z, Hachicha M
Fetal Pediatr Pathol 2013 Jul;32(4):241-5. Epub 2012 Sep 24 doi: 10.3109/15513815.2012.721479. PMID: 23002911
Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody.
Shamsian BS, Mansouri D, Pourpak Z, Rezaei N, Chavoshzadeh Z, Jadali F, Gharib A, Alavi S, Eghbali A, Arzanian MT
Iran J Allergy Asthma Immunol 2008 Sep;7(3):181-4. PMID: 18780954
Intractable colitis associated with chronic granulomatous disease.
Arimura Y, Goto A, Yamashita K, Endo T, Ikeda H, Tanaka K, Tsutsumi H, Shinomura Y, Imai K
J Med Microbiol 2006 Nov;55(Pt 11):1587-1590. doi: 10.1099/jmm.0.46722-0. PMID: 17030921
Incidence, severity, and prevention of infections in chronic granulomatous disease.
Mouy R, Fischer A, Vilmer E, Seger R, Griscelli C
J Pediatr 1989 Apr;114(4 Pt 1):555-60. doi: 10.1016/s0022-3476(89)80693-6. PMID: 2784499

Prognosis

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Ripen AM, Chiow MY, Rama Rao PR, Mohamad SB
Front Immunol 2021;12:778133. Epub 2021 Nov 4 doi: 10.3389/fimmu.2021.778133. PMID: 34804071Free PMC Article
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Bazargan N, Movahedi M, Mahlouji Rad M, Mahdaviani SA, Mamishi S, Khotaei GT, Mansouri D, Zandieh F, Pourpak Z
Scand J Immunol 2019 Jul;90(1):e12767. Epub 2019 Apr 25 doi: 10.1111/sji.12767. PMID: 30963593
Chronic granulomatous disease caused by a deficiency in p47(phox) mimicking Crohn's disease.
Huang JS, Noack D, Rae J, Ellis BA, Newbury R, Pong AL, Lavine JE, Curnutte JT, Bastian J
Clin Gastroenterol Hepatol 2004 Aug;2(8):690-5. doi: 10.1016/s1542-3565(04)00292-7. PMID: 15290662
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes.
Noack D, Rae J, Cross AR, Ellis BA, Newburger PE, Curnutte JT, Heyworth PG
Blood 2001 Jan 1;97(1):305-11. doi: 10.1182/blood.v97.1.305. PMID: 11133775
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS, Roos D
Am J Hum Genet 1992 Nov;51(5):1127-35. PMID: 1415254Free PMC Article

Clinical prediction guides

Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.
Ripen AM, Chiow MY, Rama Rao PR, Mohamad SB
Front Immunol 2021;12:778133. Epub 2021 Nov 4 doi: 10.3389/fimmu.2021.778133. PMID: 34804071Free PMC Article
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect.
Tajik S, Badalzadeh M, Fazlollahi MR, Houshmand M, Bazargan N, Movahedi M, Mahlouji Rad M, Mahdaviani SA, Mamishi S, Khotaei GT, Mansouri D, Zandieh F, Pourpak Z
Scand J Immunol 2019 Jul;90(1):e12767. Epub 2019 Apr 25 doi: 10.1111/sji.12767. PMID: 30963593
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes.
Noack D, Rae J, Cross AR, Ellis BA, Newburger PE, Curnutte JT, Heyworth PG
Blood 2001 Jan 1;97(1):305-11. doi: 10.1182/blood.v97.1.305. PMID: 11133775
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox).
de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS, Roos D
Am J Hum Genet 1992 Nov;51(5):1127-35. PMID: 1415254Free PMC Article
Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein.
Segal AW, Heyworth PG, Cockcroft S, Barrowman MM
Nature 1985 Aug 8-14;316(6028):547-9. doi: 10.1038/316547a0. PMID: 4033752

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