U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chronic granulomatous disease, autosomal, due to deficiency of CYBA

MedGen UID:
942059
•Concept ID:
CN259023
•
Disease or Syndrome

Professional guidelines

PubMed

Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients.
Yamada M, Ariga T, Kawamura N, Ohtsu M, Imajoh-Ohmi S, Ohshika E, Tatsuzawa O, Kobayashi K, Sakiyama Y
Br J Haematol 2000 Mar;108(3):511-7. doi: 10.1046/j.1365-2141.2000.01857.x. PMID: 10759707

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
Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
Baris HE, Ogulur I, Akcam B, Kiykim A, Karagoz D, Saraymen B, Akgun G, Eltan SB, Aydemir S, Akidagi Z, Bentli E, Nain E, Kasap N, Baser D, Altintas DU, Camcioglu Y, Yesil G, Ozen A, Koker MY, Karakoc-Aydiner E, Baris S
J Allergy Clin Immunol Pract 2020 Nov-Dec;8(10):3525-3534.e1. Epub 2020 Jul 28 doi: 10.1016/j.jaip.2020.07.030. PMID: 32736065
Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D, Koker MY, Nepesov S, Koker N, van Leeuwen K, de Boer M, Kıykım A, Ozsoy S, Cokugras H, Kuijpers T, Roos D, Camcıoglu Y
Int Arch Allergy Immunol 2020;181(7):540-550. Epub 2020 Jun 8 doi: 10.1159/000507366. PMID: 32512560
Altered vascular activation due to deficiency of the NADPH oxidase component p22phox.
Wang H, Albadawi H, Siddiquee Z, Stone JM, Panchenko MP, Watkins MT, Stone JR
Cardiovasc Pathol 2014 Jan-Feb;23(1):35-42. Epub 2013 Sep 12 doi: 10.1016/j.carpath.2013.08.003. PMID: 24035466
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H
Blood 1996 Mar 1;87(5):1663-81. PMID: 8634410

Diagnosis

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
Clinical features and outcomes of patients with chronic granulomatous disease in Taiwan.
Lin TS, Lee JH, Wang LC, Yang YH, Lau YL, Lee WI, Lin YT, Chiang BL, Yu HH
J Microbiol Immunol Infect 2023 Feb;56(1):130-138. Epub 2022 Jul 6 doi: 10.1016/j.jmii.2022.06.005. PMID: 35842407
Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.
Aygun D, Koker MY, Nepesov S, Koker N, van Leeuwen K, de Boer M, Kıykım A, Ozsoy S, Cokugras H, Kuijpers T, Roos D, Camcıoglu Y
Int Arch Allergy Immunol 2020;181(7):540-550. Epub 2020 Jun 8 doi: 10.1159/000507366. PMID: 32512560
Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease.
Badalzadeh M, Tajik S, Fazlollahi MR, Houshmand M, Fattahi F, Alizadeh Z, Movahedi M, Adab Z, Khotaei GT, Hamidieh AA, Heidarnazhad H, Pourpak Z
Int J Immunogenet 2017 Dec;44(6):314-321. Epub 2017 Sep 20 doi: 10.1111/iji.12336. PMID: 28941186
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
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

Clinical features and outcomes of patients with chronic granulomatous disease in Taiwan.
Lin TS, Lee JH, Wang LC, Yang YH, Lau YL, Lee WI, Lin YT, Chiang BL, Yu HH
J Microbiol Immunol Infect 2023 Feb;56(1):130-138. Epub 2022 Jul 6 doi: 10.1016/j.jmii.2022.06.005. PMID: 35842407
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
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
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
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H
Blood 1996 Mar 1;87(5):1663-81. PMID: 8634410

Prognosis

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
Baris HE, Ogulur I, Akcam B, Kiykim A, Karagoz D, Saraymen B, Akgun G, Eltan SB, Aydemir S, Akidagi Z, Bentli E, Nain E, Kasap N, Baser D, Altintas DU, Camcioglu Y, Yesil G, Ozen A, Koker MY, Karakoc-Aydiner E, Baris S
J Allergy Clin Immunol Pract 2020 Nov-Dec;8(10):3525-3534.e1. Epub 2020 Jul 28 doi: 10.1016/j.jaip.2020.07.030. PMID: 32736065
Activation of cryptic splice sites in three patients with chronic granulomatous disease.
de Boer M, van Leeuwen K, Hauri-Hohl M, Roos D
Mol Genet Genomic Med 2019 Sep;7(9):e854. Epub 2019 Jul 30 doi: 10.1002/mgg3.854. PMID: 31364312Free PMC Article
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
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
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
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
Hossle JP, de Boer M, Seger RA, Roos D
Hum Genet 1994 Apr;93(4):437-42. doi: 10.1007/BF00201671. PMID: 8168815

Clinical prediction guides

Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort.
Baris HE, Ogulur I, Akcam B, Kiykim A, Karagoz D, Saraymen B, Akgun G, Eltan SB, Aydemir S, Akidagi Z, Bentli E, Nain E, Kasap N, Baser D, Altintas DU, Camcioglu Y, Yesil G, Ozen A, Koker MY, Karakoc-Aydiner E, Baris S
J Allergy Clin Immunol Pract 2020 Nov-Dec;8(10):3525-3534.e1. Epub 2020 Jul 28 doi: 10.1016/j.jaip.2020.07.030. PMID: 32736065
Activation of cryptic splice sites in three patients with chronic granulomatous disease.
de Boer M, van Leeuwen K, Hauri-Hohl M, Roos D
Mol Genet Genomic Med 2019 Sep;7(9):e854. Epub 2019 Jul 30 doi: 10.1002/mgg3.854. PMID: 31364312Free PMC Article
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review.
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
Diagnosis and carrier detection of chronic granulomatous disease in five families by flow cytometry.
Crockard AD, Thompson JM, Boyd NA, Haughton DJ, McCluskey DR, Turner CP
Int Arch Allergy Immunol 1997 Oct;114(2):144-52. doi: 10.1159/000237660. PMID: 9338608
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic granulomatous disease by mismatch PCR and restriction enzyme analysis.
Hossle JP, de Boer M, Seger RA, Roos D
Hum Genet 1994 Apr;93(4):437-42. doi: 10.1007/BF00201671. PMID: 8168815

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.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • 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...