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   CYBAbase
   Variation registry for  Autosomal recessive p22phox deficiency


CYBAbase mutation publications

[2010] [2009] [2008] [2006] [2002] [2000] [1996] [1994] [1992] [1991] [1990] [1985] [ ]

Search PubMed latest citations for CYBA mutations

    2010

  • Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
    Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ
    Blood Cells Mol Dis 2010(4): 291-9 [PubMed abstract].

    2009

  • First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families.
    Bakri FG, Martel C, Khuri-Bulos N, Mahafzah A, El-Khateeb MS, Al-Wahadneh AM, Hayajneh WA, Hamamy HA, Maquet E, Molin M, Stasia MJ
    J Clin Immunol 2009(2): 215-30 [PubMed abstract].

    2008

  • Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.
    Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Etzioni A, Roos D
    Clin Immunol 2008(1): 103-14 [PubMed abstract].

  • Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease.
    Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, Cheraghi T, Parvaneh N
    Br J Haematol 2008(6): 848-51 [PubMed abstract].

  • Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.
    Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B
    Hum Mutat 2008(9): E132-49 [PubMed abstract].

    2006

  • Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.
    El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, Tebib N, Abdelmoula MS, Boukthir S, Fitouri Z, M'Rad S, Bouslama K, Touiri H, Abdelhak S, Dellagi MK
    J Hum Genet 2006(10): 887-95 [PubMed abstract].

    2002

  • A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.
    Stasia MJ, Bordigoni P, Martel C, Morel F
    Hum Genet 2002(5): 444-50 [PubMed abstract].

    2000

  • Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update).
    Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG
    Blood Cells Mol Dis 2000(5): 561-5 [PubMed abstract].

  • Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
    Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S
    Hum Genet 2000(5): 473-81 [PubMed abstract].

  • 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(3): 511-7 [PubMed abstract].

  • Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
    Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR
    Blood 2000(3): 1106-12 [PubMed abstract].

    1996

  • 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(5): 1663-81 [PubMed abstract].

  • Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease.
    Cross AR, Curnutte JT, Heyworth PG
    Blood Cells Mol Dis 1996(3): 268-70 [PubMed abstract].

  • Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.
    Porter CD, Parkar MH, Kinnon C
    Hum Mutat 1996(4): 374 [PubMed abstract].

    1994

  • 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(4): 437-42 [PubMed abstract].

    1992

  • 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(5): 1127-35 [PubMed abstract].

    1991

  • Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease.
    Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH, Seger RA, Curnutte JT
    Proc Natl Acad Sci U S A 1991(24): 11231-5 [PubMed abstract].

    1990

  • Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease.
    Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin SH
    J Clin Invest 1990(5): 1729-37 [PubMed abstract].

    1985

  • Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization.
    Weening RS, Corbeel L, de Boer M, Lutter R, van Zwieten R, Hamers MN, Roos D
    J Clin Invest 1985(3): 915-20 [PubMed abstract].

  • A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease.
    de Boer M, Hartl D, Wintergerst U, Belohradsky BH, Roos D
    Blood Cells Mol Dis (3): 365-9 [PubMed abstract].