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- databases for immunodeficiency-causing mutations

   Mutation registry for  Autosomal recessive p47phox deficiency

NCF1base mutation publications

[2010] [2009] [2008] [2007] [2006] [2003] [2002] [2001] [1996] [1993] [1988] [ ]

Search PubMed latest citations for NCF1 mutations


  • 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].


  • Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease.
    Jakobsen MA, Pedersen SS, Barington T
    Genet Test Mol Biomarkers 2009(4): 505-10 [PubMed abstract].

  • A novel mutation in NCF1 in an adult CGD patient with a liver abscess as first presentation.
    van de Vosse E, van Wengen A, van Geelen JA, de Boer M, Roos D, van Dissel JT
    J Hum Genet 2009(6): 313-6 [PubMed abstract].


  • 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].

  • 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].


  • 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].


  • 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].

  • 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].

  • Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
    Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, Palmblad J, Sanal O, Kurenko-Deptuch M, Jolles S, Wolach B
    Hum Mutat 2006(12): 1218-29 [PubMed abstract].


  • [A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease].
    Kabuki T, Kawai T, Kin Y, Joh K, Ohashi H, Kosho T, Yachie A, Kanegane H, Miyawaki T, Oh-ishi T
    Nihon Rinsho Meneki Gakkai Kaishi 2003(5): 299-303 [PubMed abstract].


  • Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1.
    de Boer M, Singh V, Dekker J, Di Rocco M, Goldblatt D, Roos D
    Prenat Diagn 2002(3): 235-40 [PubMed abstract].


  • 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(1): 305-11 [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].


  • In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease.
    Volpp BD, Lin Y
    J Clin Invest 1993(1): 201-7 [PubMed abstract].


  • Chronic granulomatous disease due to a defect in the cytosolic factor required for nicotinamide adenine dinucleotide phosphate oxidase activation.
    Curnutte JT, Berkow RL, Roberts RL, Shurin SB, Scott PJ
    J Clin Invest 1988(2): 606-10 [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].

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Last modified 15.11.2011