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   Variation registry for  X-linked chronic granulomatous disease (XCGD)


CYBBbase mutation publications

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Search PubMed latest citations for CYBB mutations

    2010

  • Hematologically important mutations: X-linked chronic granulomatous disease (third update).
    Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI
    Blood Cells Mol Dis 2010(3): 246-65 [PubMed abstract].

  • Rapid genetic analysis of x-linked chronic granulomatous disease by high-resolution melting.
    Hill HR, Augustine NH, Pryor RJ, Reed GH, Bagnato JD, Tebo AE, Bender JM, Pasi BM, Chinen J, Hanson IC, de Boer M, Roos D, Wittwer CT
    J Mol Diagn 2010(3): 368-76 [PubMed abstract].

    2008

  • 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].

  • Molecular diagnosis of X-linked chronic granulomatous disease in Iran.
    Teimourian S, Rezvani Z, Badalzadeh M, Kannengiesser C, Mansouri D, Movahedi M, Zomorodian E, Parvaneh N, Mamishi S, Pourpak Z, Moin M
    Int J Hematol 2008(4): 398-404 [PubMed abstract].

  • Susceptibility to mycobacterial infections in children with X-linked chronic granulomatous disease: a review of 17 patients living in a region endemic for tuberculosis.
    Lee PP, Chan KW, Jiang L, Chen T, Li C, Lee TL, Mak PH, Fok SF, Yang X, Lau YL
    Pediatr Infect Dis J 2008(3): 224-30 [PubMed abstract].

    2007

  • Severe X-linked chronic granulomatous disease in two unrelated females.
    Chollet-Martin S, Lopez A, Gaud C, Henry D, Stos B, El Benna J, Chedevile G, Gendrel D, Gougerot-Pocidalo MA, Grandchamp B, Gérard B
    Eur J Pediatr 2007(2): 153-9 [PubMed abstract].

  • A novel mutation of the CYBB gene resulting in severe form of X-linked chronic granulomatous disease.
    Jirapongsananuruk O, Noack D, Boonchoo S, Thepthai C, Chokephaibulkit K, Visitsunthorn N, Vichyanond P, Luangwedchakarn V, Likasitwattanakul S, Piboonpocanun S
    Asian Pac J Allergy Immunol 2007(4): 249-52 [PubMed abstract].

  • Mutations of chronic granulomatous disease in Turkish families.
    Köker MY, Sanal O, De Boer M, Tezcan I, Metin A, Ersoy F, Roos D
    Eur J Clin Invest 2007(7): 589-95 [PubMed abstract].

  • BCG-osis and tuberculosis in a child with chronic granulomatous disease.
    Bustamante J, Aksu G, Vogt G, de Beaucoudrey L, Genel F, Chapgier A, Filipe-Santos O, Feinberg J, Emile JF, Kutukculer N, Casanova JL
    J Allergy Clin Immunol 2007(1): 32-8 [PubMed abstract].

  • Nonsense mutations of the CYBB gene in two Thai families with X-linked chronic granulomatous disease.
    Vilaiphan P, Chatchatee P, Ngamphaiboon J, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V
    Asian Pac J Allergy Immunol 2007(4): 243-7 [PubMed abstract].

    2006

  • A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).
    Rump A, Rösen-Wolff A, Gahr M, Seidenberg J, Roos C, Walter L, Günther V, Roesler J
    Gene 2006(2): 174-81 [PubMed abstract].

  • Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.
    von Goessel H, Hossle JP, Seger R, Gungor T
    Exp Hematol 2006(4): 528-35 [PubMed abstract].

  • Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics.
    Agudelo-Flórez P, Prando-Andrade CC, López JA, Costa-Carvalho BT, Quezada A, Espinosa FJ, de Souza Paiva MA, Roxo P, Grumach A, Jacob CA, Carneiro-Sampaio MM, Newburger PE, Condino-Neto A
    Pediatr Blood Cancer 2006(2): 243-52 [PubMed abstract].

    2005

  • Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report.
    Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D
    Am J Hematol 2005(1): 50-4 [PubMed abstract].

  • Molecular characterization of a novel splice site mutation within the CYBB gene leading to X-linked chronic granulomatous disease.
    Barese CN, Copelli SB, De Matteo E, Zandomeni R, Salgueiro F, Di Giovanni D, Heyworth P, Rivas EM
    Pediatr Blood Cancer 2005(4): 420-2 [PubMed abstract].

  • Gene symbol: CYBB. Disease: X-linked chronic granulomatous disease.
    Stasia MJ
    Hum Genet 2005(3): 236 [PubMed abstract].

  • Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.
    Stasia MJ, Bordigoni P, Floret D, Brion JP, Bost-Bru C, Michel G, Gatel P, Durant-Vital D, Voelckel MA, Li XJ, Guillot M, Maquet E, Martel C, Morel F
    Hum Genet 2005(1-2): 72-82 [PubMed abstract].

    2004

  • Molecular analysis of X-linked chronic granulomatous disease in five unrelated Korean patients.
    Oh HB, Park JS, Lee W, Yoo SJ, Yang JH, Oh SY
    J Korean Med Sci 2004(2): 218-22 [PubMed abstract].

    2003

  • Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation.
    Anderson-Cohen M, Holland SM, Kuhns DB, Fleisher TA, Ding L, Brenner S, Malech HL, Roesler J
    Clin Immunol 2003(3): 308-17 [PubMed abstract].

  • Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.
    Jirapongsananuruk O, Malech HL, Kuhns DB, Niemela JE, Brown MR, Anderson-Cohen M, Fleisher TA
    J Allergy Clin Immunol 2003(2): 374-9 [PubMed abstract].

  • Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB.
    Stasia MJ, Brion JP, Boutonnat J, Morel F
    J Infect Dis 2003(10): 1593-604 [PubMed abstract].

    2002

  • Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood.
    Lun A, Roesler J, Renz H
    Clin Chem 2002(5): 780-1 [PubMed abstract].

  • Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease.
    Lin SJ, Huang YF, Chen JY, Heyworth PG, Noack D, Wang JY, Lin CY, Chiang BL, Yang CM, Liu CC, Shieh CC
    Biochim Biophys Acta 2002(3): 275-86 [PubMed abstract].

  • Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail.
    Stasia MJ, Lardy B, Maturana A, Rousseau P, Martel C, Bordigoni P, Demaurex N, Morel F
    Biochim Biophys Acta 2002(3): 316-30 [PubMed abstract].

  • CYBB mutation analysis in X-linked chronic granulomatous disease.
    Jirapongsananuruk O, Niemela JE, Malech HL, Fleisher TA
    Clin Immunol 2002(1): 73-6 [PubMed abstract].

    2001

  • Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
    Gérard B, El Benna J, Alcain F, Gougerot-Pocidalo MA, Grandchamp B, Chollet-Martin S
    Hum Mutat 2001(2): 163 [PubMed abstract].

    2000

  • 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].

  • Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.
    Weening RS, De Boer M, Kuijpers TW, Neefjes VM, Hack WW, Roos D
    Clin Exp Immunol 2000(3): 410-7 [PubMed abstract].

  • Four novel mutations in the gene encoding gp91-phox of human NADPH oxidase: consequences for oxidase assembly.
    Leusen JH, Meischl C, Eppink MH, Hilarius PM, de Boer M, Weening RS, Ahlin A, Sanders L, Goldblatt D, Skopczynska H, Bernatowska E, Palmblad J, Verhoeven AJ, van Berkel WJ, Roos D
    Blood 2000(2): 666-73 [PubMed abstract].

    1999

  • Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.
    Roesler J, Heyden S, Burdelski M, Schäfer H, Kreth HW, Lehmann R, Paul D, Marzahn J, Gahr M, Rösen-Wolff A
    Exp Hematol 1999(3): 505-11 [PubMed abstract].

  • Missense mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and negative X-linked chronic granulomatous disease.
    Kaneda M, Sakuraba H, Ohtake A, Nishida A, Kiryu C, Kakinuma K
    Blood 1999(6): 2098-104 [PubMed abstract].

    1998

  • X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
    Rae J, Newburger PE, Dinauer MC, Noack D, Hopkins PJ, Kuruto R, Curnutte JT
    Am J Hum Genet 1998(6): 1320-31 [PubMed abstract].

  • Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.
    de Boer M, Bakker E, Van Lierde S, Roos D
    Blood 1998(1): 252-7 [PubMed abstract].

  • Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients.
    Dusi S, Nadalini KA, Donini M, Zentilin L, Wientjes FB, Roos D, Giacca M, Rossi F
    J Immunol 1998(9): 4968-74 [PubMed abstract].

  • PU.1 as an essential activator for the expression of gp91(phox) gene in human peripheral neutrophils, monocytes, and B lymphocytes.
    Suzuki S, Kumatori A, Haagen IA, Fujii Y, Sadat MA, Jun HL, Tsuji Y, Roos D, Nakamura M
    Proc Natl Acad Sci U S A 1998(11): 6085-90 [PubMed abstract].

  • A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
    Tsuda M, Kaneda M, Sakiyama T, Inana I, Owada M, Kiryu C, Shiraishi T, Kakinuma K
    Hum Genet 1998(4): 377-81 [PubMed abstract].

  • Genetic analysis of 13 families with X-linked chronic granulomatous disease reveals a low proportion of sporadic patients and a high proportion of sporadic carriers.
    Ariga T, Furuta H, Cho K, Sakiyama Y
    Pediatr Res 1998(1): 85-92 [PubMed abstract].

  • Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase.
    Yoshida LS, Saruta F, Yoshikawa K, Tatsuzawa O, Tsunawaki S
    J Biol Chem 1998(43): 27879-86 [PubMed abstract].

    1997

  • An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.
    Jendrossek V, Ritzel A, Neubauer B, Heyden S, Gahr M
    Eur J Haematol 1997(2): 78-85 [PubMed abstract].

  • Hematologically important mutations: X-linked chronic granulomatous disease--an update.
    Heyworth PG, Curnutte JT, Noack D, Cross AR
    Blood Cells Mol Dis 1997(3): 443-50 [PubMed abstract].

    1996

  • Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.
    Hui YF, Chan SY, Lau YL
    Blood 1996(10): 4021-8 [PubMed abstract].

  • Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis.
    Porter CD, Kuribayashi F, Parkar MH, Roos D, Kinnon C
    Biochem J 1996(): 571-5 [PubMed abstract].

  • 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].

  • X-CGDbase: a database of X-CGD-causing mutations.
    Roos D
    Immunol Today 1996(11): 517-21 [PubMed abstract].

    1995

  • A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease.
    Azuma H, Oomi H, Sasaki K, Kawabata I, Sakaino T, Koyano S, Suzutani T, Nunoi H, Okuno A
    Blood 1995(11): 3274-7 [PubMed abstract].

  • [Chronic granulomatosis: a rare differential diagnosis in liver granulomas in adulthood].
    Glaser J, Gahr M, munnethal A, Mann O, von Eiff M, Pausch J
    Dtsch Med Wochenschr 1995(18): 646-8 [PubMed abstract].

  • Molecular analysis in three cases of X91- variant chronic granulomatous disease.
    Bu-Ghanim HN, Segal AW, Keep NH, Casimir CM
    Blood 1995(9): 3575-82 [PubMed abstract].

  • Human peripheral eosinophils have a specific mechanism to express gp91-phox, the large subunit of cytochrome b558.
    Kuribayashi F, Kumatori A, Suzuki S, Nakamura M, Matsumoto T, Tsuji Y
    Biochem Biophys Res Commun 1995(1): 146-52 [PubMed abstract].

  • A variant X-linked chronic granulomatous disease patient (X91+) with partially functional cytochrome b.
    Cross AR, Heyworth PG, Rae J, Curnutte JT
    J Biol Chem 1995(14): 8194-200 [PubMed abstract].

    1994

  • The genetic basis of chronic granulomatous disease.
    Roos D
    Immunol Rev 1994(): 121-57 [PubMed abstract].

  • Assessment of the contribution of the cytochrome b moiety of the NADPH oxidase to the transmembrane H+ conductance of leukocytes.
    Nanda A, Romanek R, Curnutte JT, Grinstein S
    J Biol Chem 1994(44): 27280-5 [PubMed abstract].

  • Two novel point mutations in the cytochrome b 558 heavy chain gene, detected in two Japanese patients with X-linked chronic granulomatous disease.
    Ariga T, Sakiyama Y, Matsumoto S
    Hum Genet 1994(4): 441 [PubMed abstract].

  • Molecular genetic studies of two families with X-linked chronic granulomatous disease: mutation analysis and definitive determination of carrier status in patients' sisters.
    Ariga T, Sakiyama Y, Furuta H, Matsumoto S
    Eur J Haematol 1994(2): 99-102 [PubMed abstract].

  • A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox.
    Leusen JH, de Boer M, Bolscher BG, Hilarius PM, Weening RS, Ochs HD, Roos D, Verhoeven AJ
    J Clin Invest 1994(5): 2120-6 [PubMed abstract].

  • Chronic granulomatous disease.
    Thrasher AJ, Keep NH, Wientjes F, Segal AW
    Biochim Biophys Acta 1994(1-2): 1-24 [PubMed abstract].

  • Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558.
    Newburger PE, Skalnik DG, Hopkins PJ, Eklund EA, Curnutte JT
    J Clin Invest 1994(3): 1205-11 [PubMed abstract].

    1993

  • Chronic granulomatous disease: the solving of a clinical riddle at the molecular level.
    Curnutte JT
    Clin Immunol Immunopathol 1993(3 Pt 2): S2-15 [PubMed abstract].

  • A 40-base-pair duplication in the gp91-phox gene leading to X-linked chronic granulomatous disease.
    Rabbani H, de Boer M, Ahlin A, Sundin U, Elinder G, Hammarström L, Palmblad J, Smith CI, Roos D
    Eur J Haematol 1993(4): 218-22 [PubMed abstract].

  • Chronic granulomatous disease: mutations in cytochrome b558.
    Roos D, De Boer M, De Klein A, Bolscher BG, Weening RS
    Immunodeficiency 1993(1-4): 289-301 [PubMed abstract].

  • A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.
    Ariga T, Sakiyama Y, Tomizawa K, Imajoh-Ohmi S, Kanegasaki S, Matsumoto S
    Eur J Pediatr 1993(6): 469-72 [PubMed abstract].

    1992

  • Splice site mutations are a common cause of X-linked chronic granulomatous disease.
    de Boer M, Bolscher BG, Dinauer MC, Orkin SH, Smith CI, Ahlin A, Weening RS, Roos D
    Blood 1992(6): 1553-8 [PubMed abstract].

    1991

  • Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease.
    Bolscher BG, de Boer M, de Klein A, Weening RS, Roos D
    Blood 1991(11): 2482-7 [PubMed abstract].

  • Chronic granulomatous disease presenting in a 69-year-old man.
    Schapiro BL, Newburger PE, Klempner MS, Dinauer MC
    N Engl J Med 1991(25): 1786-90 [PubMed abstract].

    1990

  • RFLP and deletion analysis for X-linked chronic granulomatous disease using the cDNA probe: potential for improved prenatal diagnosis and carrier determination.
    Pelham A, O'Reilly MA, Malcolm S, Levinsky RJ, Kinnon C
    Blood 1990(4): 820-4 [PubMed abstract].

    1988

  • Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.
    de Saint-Basile G, Bohler MC, Fischer A, Cartron J, Dufier JL, Griscelli C, Orkin SH
    Hum Genet 1988(1): 85-9 [PubMed abstract].

  • Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.
    Frey D, Mächler M, Seger R, Schmid W, Orkin SH
    Blood 1988(1): 252-5 [PubMed abstract].

    1986

  • Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.
    Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH
    Cold Spring Harb Symp Quant Biol 1986(): 177-83 [PubMed abstract].

    1985

  • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.
    Francke U, Ochs HD, de Martinville B, Giacalone J, Lindgren V, Distèche C, Pagon RA, Hofker MH, van Ommen GJ, Pearson PL
    Am J Hum Genet 1985(2): 250-67 [PubMed abstract].

  • Lymphadenopathy after BCG vaccination in a child with chronic granulomatous disease.
    Vieira AP, Vasconcelos J, Fernandes JC, Antunes H, Basto AS, Macedo C, Zaman A, Santos E, Melo JC, Roos D
    Pediatr Dermatol (6): 646-51 [PubMed abstract].

  • Hematologically important mutations: X-linked chronic granulomatous disease (second update).
    Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, Cross AR
    Blood Cells Mol Dis (1): 16-26 [PubMed abstract].

  • X-linked chronic granulomatous disease (CGD) caused by an intra-exonic splice mutation (CYBB exon 3, c.262G->A) is mimicking juvenile sarcoidosis.
    Brunner J, Dockter G, Rösen-Wolff A, Roesler J
    Clin Exp Rheumatol (2): 336-8 [PubMed abstract].

  • Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location.
    Royer-Pokora B, Kunkel LM, Monaco AP, Goff SC, Newburger PE, Baehner RL, Cole FS, Curnutte JT, Orkin SH
    Nature (6074): 32-8 [PubMed abstract].

  • The search for a genetic defect in Polish patients with chronic granulomatous disease.
    Jurkowska M, Kurenko-Deptuch M, Bal J, Roos D
    Arch Immunol Ther Exp (Warsz) (6): 441-6 [PubMed abstract].