CGD
Bibliographie
Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O, Kenney RT, Kanegasaki S.
Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease.
Blood., 88 : 1841-5, 1996.
Ariga T., Nakanishi M., Tomizawa K., Imajoh-Ohmi S. , Kanegasaki S. , Sakiyama Y., Matsumoto S..
Genetic heterogeneity in patients with X-linked chronic granulomatous disease.
Pediatr. Res., 31: 516-519, 1992.
Ariga T., Sakiyama Y., Tomizawa K., Imajoh-Ohmi S., Kanegasaki S., Matsumoto S..
A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine 57 by glutamic
acid, in a patient with cytochrome b positive chronic granulomatous disease.
Eur. J. Pediatr., 152 : 469-472, 1993.
Azuma H., Oomi H., Sasaki K., Kawabata I., Sakaino T., Koyano S., Suzutani T., Nunoi H., Okuno A.
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic
granulomatous disease.
Blood., 85 : 3274-7, 1995.
Berendes H., Bridges R.A., Good R.A.
A fatal granulomatosis of chidhood. The clinical study of a new syndrome.
Minn. Med., 40 : 309, 1957.
Casimir C.M., Bu-Ghanim H.N., Rodaway A.R., Bentley D.L., Rowe P., Segal A.W.
Attosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat.
Proc. Natl. Acad. Sci. USA., 88 : 2753-7, 1991.
Chanock S.J., Faust L.R., Barrett D., Christensen B., Newburger P.E., Babior B.M.
Partial reconstitution of the respiratory burst oxidase in lymphoblastoid B cell lines lacking p67-phox after
transfection with an expression vector containing wild-type and mutant p67 -phox cDNAs: Deletions of the
carboxy and aminoterminal residues of p67-phox are not required for activity.
Exp Hematol., 24 : 531-6, 1996.
Cohen Tanugi Cholley l., Issartel J.P., Lunardi J., Freycon F., Morel F., and Vignais P.V.
A mutation located at the 5' splice junction sequence of intron 3 in the p67 phox mRNA in a patient with chronic
granulomatous disease
Blood., 85 : 242–249, 1995.
Cornejo De Luigi M., Lopez J.A., Navarro S., Garcia D., Patino P.J.
[Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47phox deficiency].
Rev Med Chil., 128 : 491-8. 2000, Spanish.
Cross A.R., Heyworth P.G., Rae J., Curnutte J.T..
A variant X-linked chronic granulomatous disease patient (X91 +) with partially functional cytochrome b.
J. Biol. Chem., 270 : 8194-8200, 1995.
Cross A.R., Noack D., Rae J., Curnutte J.T., Heyworth P.G.
Hematologically important mutations : The autosomal recessive forms of chronic granulomatous disease (first
update).
Blood Cells, Molecules, and Diseases., 26 : 561-565, 2000.
Curnutte J.T.
Chronic granulomatous disease: The solving of a clinical riddle at the molecular level.
Clin. Immunol. Immunopath., 67 : S2-S15, 1993.
Dahlgren C., Karlsson A.
Respiratory burst in human neutrophils.
J. of Immunol. Methods, 232 : 3-14, 1999.
de Boer M., de Klein A., Hossle J.P., Seger R., corbeel L., Weenings R.S., Roos D.
Cytochome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the
cytochrome b558 light chain of the NADPH oxidase (p22-phox).
Am. J. Hum. Genet., 51: 1127-1135, 1992.
de Boer M., Hilarius-Stokman P.M., Hossle JP.., Verhoeven A.J., Graf N., Kenney R.T., Seger R., Roos D.
Autosomal recessive chronic granulomatous disease with absence of the 67-kD cytosolic NADPH oxidase
component: identification of mutation and detection of carriers.
Blood., 83 : 531-6, 1994.
De Silva U., Miller E., Görlach A., Foster C.B., Green E.D., Chanock S.J.
Molecular characterization of the mouse p47-phox (Ncf-1) gene and comparative analysis of the mouse p47-phox
(Ncf-1) gene to the human NCF1 gene.
Mol. Cell Biol. Res. Commun., 3 : 224-230, 2000.
Dinauer M.C., Curnutte J.T., Rosen H., Orkin S.H.
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic
granulomatous disease.
J. Clin. Invest., 84 : 2012-2016, 1989.
Dinauer M.C., Pierce E.A., Bruns G.A.P., Curnutte J.T., Orkin S.H.
Human neutrophil cytochrome b light chain (p22phox): gene structure, chromosomal localization and mutations in
cytochrome-negative autosomal recessive chronic granulomatous disease.
J. Clin. Invest., 86 : 1729-1737, 1990.
Dinauer M.C., Pierce E.A., Erickson R.W., Muhlebach T.J., Messner H., Orkin S.H., Seger R.A., Curnutte J.T.
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.
Proc Natl Acad Sci USA, 88 : 11231-11235, 1991.
Forrest CB, Forehand JR, Axtell RA, Roberts, Johnston RB.
Clinical features and current management of chronic granulomatous disease.
Hematol. Oncol. Clin. North. Am., 2 : 253, 1988.
Francke U., Hsieh C.L., Foellmer B.E., Lomax K.J., Malech H.L., Leto T.L.
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2)
and 7q11.23 (NCF1).
Am. J. Hum. Genet., 47 : 483-92, 1990.
Gallin J.I.
Interferon-gamma in the treatment of the chronic granulomatous diseases of childhood.
Clin. Immunol. Immunopathol., 61 (2 Pt 2) : S100-5, 1991.
Goldblatt D., Trasher A.J.
Chronic granulomatous disease.
Clin. Exp. Immunol., 122 : 1-9, 2000.
., Seger R., Hossle
J.P.
Gene therapy of chronic granulomatous disease. Session IX : Stem cell gene therapy.
Bone Marrow Transplantation, 25 (suppl. 2) : S99-S104, 2000.
Hobbs J.R., Monteil M., Mc Clinskey D.R., Jurges E., El Tumi M.
Chronic granulomatous disease 100% corrected by displacement bone narrow transplantation from a volontar
unrelated donor.
Eur. J. Pediatr., 191 : 806-810, 1992.
Hossle J.P., de Boer M., Seger R.A., Roos D.
Identification of allele-specific p22-phox mutations in a compound heterozygous patient with chronic
granulomatous disease by mismatch PCR and restriction enzyme analysis.
Hum. Genet. , 93 : 437-442, 1994.
International Chronic Granulomatous Disease Cooperative Study Group.
Control trial of Interferon-gamma to prevent infection in chronic granulomatous disease.
N. Engl. J. Med., 324, 8 : 509 – 516, 1991.
Ishibashi F., Nunoi H., Endo F., Matsuda I., Kanegasaki S.
Statistical and mutational analysis of chronic ggranulomatous disease in Japan with special reference to gp91phox and p22-phox deficiency.
Hum Genet., 106 : 473-81, 2000.
Jackson S.H., Gallin J.I., Holland S.M.
The p47-phox mouse knout-out model of chronic granulomatous disease.
J. Exp. Med., 182 : 751-8.
Jendrossek V., Ritzel A., Neubauer B., Heyden S., Gahr M.
An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient
with residual NADPH-oxidase activity.
Eur. J. Haematol., 58 (1997) 78-82.
Kaneda M., Sakuraba H., Ohtake A., Nishida A., Kiryu C., Kakinuma A.
Missense Mutations in the gp91-phox gene encoding cytochrome b558 in patients with cytochrome b positive and
negative X-linked chronic granulomatous disease
Blood 93, 2098-2104, 1999.
Kenney R.T., Malech H.L., Epstein N.D., Roberts R.L., Leto T.L.
Characterization of the p67-phox gene : genomic organization and restriction fragment length polymorphism
analysis for prenatal diagnosis in chronic granulomatous disease.
Blood., 82 : 3739-44, 1993.
Kenney RT, Leto TL.
A HindIII polymorphism in the human NCF2 gene.
Nucleic Acids Res., 18 : 7193, 1990.
Kume A., Dinauer M.C.
Gene therapy for chronic granulomatous disease.
J. Lab. Clin. Med., 135 : 122-8, 2000.
Leusen J.H., Bolscher B.G., Hilarius P.M., Weening R.S., Kaulfersch W., Seger R.A., Roos D., Verhoeven A.J.
156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads
to defective translocation of the cytosolic proteins p47-phox and p67-phox.
J Exp Med., 180 : 2329-34, 1994.
Leusen J.H. W., De Boer M., Bolscher B.G.J.M., Hilarius P.M., Weenning R.S., Ochs H.D., Roos D., Verhoeven
A.J.
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.
J. Clin. Invest., 93 : 2120 – 2126, 1994.
Leusen J.H., de Klein A., Hilarius P.M., Ahlin A., Palmblad J., Smith C.I., Diekmann D., Hall A., Verhoeven A.J.,
Roos D.
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease.
J Exp Med., 184 : 1243-9, 1996
Leusen J.H., MeischlC., Eppinck M.H., Hilarius P.M., de Boer M., Weening R.S., Ahlin A., Sanders L.,
Goldblatt D., Skopczynska H., bertanwska E., Palmblad J., Verhoeven A.J., van Berken W.J., Roos D.
Four novel mutations in thé gene encoding gp-91phox of human NADPH-oxidase : consequences for oxidase
assembly.
Blood, 95 : 666-673, 2000.
Li F., Linton G.F., Sekhsaria S., Whiting-Theobald N., Katkin J.P., Gallin J.I., Malech H.L.
CD34+ peripheral blood progenitors as a target for genetic correction of the two flavocytochrome b558
defective forms of chronic granulomatous disease.
Blood., 84 : 53-8, 1994.
Liese J.G., Jendrossek V., Jansson A., Petropoulou T., Kloos S., Gahr M., Belohradsky B.H.
Chronic granulomatous disease in adults.
Lancet., 347 : 220-3, 1996.
Malech H.L.
Progress in gene therapy for granulomatous disease .
J. Infect. Dis., 179 : Suppl 2: S 318-S325, 1999.
Malech H.L., Maples P.B., Whiting-Theobald N., Linton G.F., Sekhsaria S., Vowells S.J., Li F., Miller J.A., DeCarlo
E., Holland S.M., Leitman S.F., Carter CS, Butz RE, Read E.J., Fleisher T.A., Schneiderman R.D., Van Epps
D.E., Spratt S.K., Maack C.A., Rokovich J.A.,Cohen L.K., Gallin J.I.
Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous
disease.
Proc. Natl. Acad., Sci. USA, 94 : 12133-12138, 1997.
Maly F.E., Schuerer-Maly C.C., Quilliam L., Cochrane C.G., Newburger P.E., Curnutte J.T., Gifford M.,
Dinauer M.C.
Restitution of superoxide generation in autosomal cytochrome-negative chronic granulomatous disease
(A22(0) CGD)-derived B lymphocyte cell lines by transfection with p22phox cDNA.
J. Exp. Med., 178 : 2047-53, 1993.
Mardiney M., Jackson S.H., Spratt S.K., Li F., Holland S.M., Malech H.L.
Enhanced host defense after gene transfer in the murine p47-phox-deficient model of chronic granulomatous
disease.
Blood., 89 : 2268-75, 1997.
Morel F., Boulay F., Doussière J., Vignais P.
Bases moléculaires de la granulomatose septique chronique.
Médecine/Sciences, 8 : 912 – 920, 1992.
Morel F., Cohen Tanugi Cholley L., Brandolin G., Dianoux A.C., Martel C., Champelovier P., Seigneurin J.M.,
François P., Bost M., P.V. Vignais.
The O2- generating oxidase of B lymphocytes : Epsten-Barr-immortalized B lymphocytes as a tool for the
identification of defective components of the oxidase in chronic granulomatous disease.
Biochem. Biophys. Acta., 1182 : 101-9, 1993.
Morel F., Doussière J., and Vignais P.V.
The superoxide-generating oxidase of phagocytic cells. Physiological, molecular and pathological aspects.
Eur. J. Biochem., 201 : 523 – 546, 1991.
Newburger P.E., Ezekowitz R.A.
Cellular and molecular effects of recombinant interferon gamma in chronic granulomatous disease.
Hematol. Oncol. Clin. North Am., 2 : 267-76, 1988.
Newburger P.E., Malawista S.E., Dinauer M.C., Gelbart T., Woodman R.C., Chada S., Shen Q., van Blaricom G.,
Qui P.G., Curnutte J.T.
Chronic granulomatous disease and gluthatione peroxidase deficiency, revisited.
Blood., 84 : 3861-9, 1994.
Noack D, Heyworth P.G., Curnutte J.T., Rae J., Cross A.R.
A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic
granulomatous disease.
Biochim Biophys Acta., 1454 : 270-4, 1999.
Noack D., Rae J., Cross A.R., Ellis B.A., Newburger P.E., Curnutte J.T., Heyworth P.G.
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the p47phox : mutations not arising in the NCF-1 pseudogenes.
Blood., 97 : 305-11, 2001.
Noack D., Rae J., Cross A.R., Munoz J., Salmen S., Mendoza J.A., Rossi N., Curnutte J.T., Heyworth P.G.
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the
p67-phox component of phagocyte NADPH oxidase.
Hum Genet.,105 : 460-7, 1999.
Nunoi H., Ishibashi F.
[Gene therapy for inherited diseases using heamatopoietic stem cells-gene therapy for patients with chronic
granulomatous disease].
Hum Cell. 12 : 103-8. 1999, Review. Japanese.
Nunoi H., Iwata M., Tatsuzawa S., Onoe Y., Shimizu S., Kanegasaki S., Matsuda I.
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein.
Blood., 86 : 329-33, 1995.
Parkos C.A., Dinauer M.C., Walker L.E., Allen R.A., Jesaitis A.J., Orkin S.H.
Primary structure and unique expression of the 22-kilodalton light chain of human neutrophil cytochrome b.
Proc Natl Acad Sci USA, 85: 3319-3323, 1988.
Patino P.J., Rae J., Noack D., Erickson R., Ding J., de Olarte D.G., Curnutte J.T.
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the
nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
Blood., 94 : 2505-14, 1999.
Pollock J.D., Williams D.A., Gifford M.A.C., Li L., Du X., Fisherman J., Orkin S.H., Doerschuk C.M., Dinauer M.C.
Mouse model of X-linked chronoc granulomatous disease, an inherited defect in phagocyte superoxide
production.
Nature Genetics., 9 : 202-9, 1995.
Porter C.D., Parker M.H., Kinnon C.
Identification of a donor splice site mutation to loss of p22 phox exon 5 in autosomal recessive chronic
granulomatous disease.
Hum. Genet., 7 : 374-377, 1996.
Porter C.D., Parker M.H., Collins M.K., Levinsky R.J., Kinnon C.
Superoxide production by normal and chronic granulomatous disease (CGD) patient-derived EBV-transformed B
cells lines measured by chemiluminescence-based assays.
J. Immunol. Methods., 155 : 151-7, 1992.
Rae J., Newburger P.E., Dinauer M.C., Noack D., Hopkins P.J., Kuruto R., Curnutte J.T.
X-Linked chronic granulomatous disease : mutations in the CYBB gene encoding the gp91-phox component of
respiratory-burst oxidase.
Am. J. Hum. Genet., 62 : 1320-1325, 1998.
Rae J., Noack D., Heyworth P.G., Ellis B.A., Curnutte J.T., Cross A.R.
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene
encoding p22(phox).
Blood., 96 : 1106-12, 2000.
Roesler J., Curnutte J.T., Rae J., Barrett D., Patino P., Chanock S.J., Goerlach A.
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause
of autosomal recessive chronic granulomatous disease.
Blood., 95 : 2150-6, 2000.
Roesler J., Heyden S., Burdelski M., Schafer H., Kreth H.W., Lehmann R., Paul D., Marzahn J., Gahr M., RosenWolff A.
Uncommon missense and splice mutations and resulting biochemical phenotypes in german patients with Xlinked chronic granulomatous disease.
Exp. Hematol., 27 : 505-511, 1999.
Roos D.
X – CGD base : a database of X – CGD – causing mutations.
Trends Immunology today, 17 : 517-521, 1996.
Roos D., Curnutte J.T.
Chronic granulomatous disease; in Ochs H, Puck J, Smith E (eds): Primary immunodeficiency Diseases.
A Molecular and Genetic Approach. New York, NY, 1997, Oxford University Press.
Roos D., De Boer M., Kuribayashi F., Meischl C., Weening R.S., Segal A.W., Ahlin A., Nemet K., Hossle J.P.,
Bertatowska-Matuskiewicz E., Middletone-Price H.
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
Blood, 87 : 1663-1681, 1996.
Rotrosen D, Yeung C.L., Leto T.L., Malech H.L., Kwong C.H.
Cytochrome b558: The flavin-binding component of the phagocyte NADPH oxidase.
Science, 256 : 1459-1462, 1992.
Royer-Pokara B., Kunkel L.M., Monaco A.P., Goff S.C., Newburger P.E., Baehner R.L., Cole F.S., Curnutte J.T.,
Orkin S.H..
Cloning the gene for an inherited human disorder – chronic granulomatous disease – on the basis of its
chromosomal location.
Nature, 322 : 32-38, 1986.
Schneider S.D., Rusconi S., Seger R.A., Hossle J.P.
Adenovirus-mediated gene transfer into monocyte-derived macrophages of patients with X-linked chronic
granulomatous disease : ex vivo correction of deficient respiratory burst.
Gene Therapy, 4 : 524-32, 1997.
Sechler J.M., Malech H.L., White C.J., Gallin J.I.
Recombinant interferon-gamma reconstitutes defective phagocyte function in patients with chronic granulomatous
disease of childhood.
Proc. Natl. Acad. Sci. USA., 85 : 4874-8, 1988.
Segal A.W.
The NADPH oxidase and chronic granulomatous disease.
Molecular medicine today, Mars : 129-135, 1996.
Segal B.M., Leto T.L., Gallin J.I., Malech H.L., Holland S.M.
Genetic and clinical features of chronic granulomatous disease.
Medicine, 79 : 170-200, 2000.
Smith R.M., Curnutte J.T.
Molecular basis of chronic granulomatous disease.
Blood., 77 : 673-686, 1991.
Trasher A.J., de Alwis M., Casimir C.M., Kinnon C., Page K., Lebkowski J., Segal A.W., Levinsky R.J.
Generation of recombinant adeno-associated virus (rrAAV) from an adenoviral vector and functional
reconstitution of the NADPH-oxidase.
Gene Ther., 2 : 481-5, 1995.
Trasher A.J., de Alwis M., Casimir C.M., Kinnon C., Page K., Lebkowski J., Segal A.W., Levinsky R.J.
Functional reconstitution of the NADPH-oxidase by adeno-associated virus gene transfer.
Blood., 86 : 761-5, 1995.
Vergnaud S., Paclet M.H., El Benna J., Pocidalo M.A., Morel F.
Complementation of NADPH oxidase in p67-phox-deficient CGD patients : p67-phox, p40-phox interaction.
Eur. J. Biochem., 267 : 1059 – 1067, 2000.
Volkman D.J., Buescher E.S., Gallin J.L. and Fauci A.S. :
B cell lines as a model for inherited phagocytic diseases : abnormal superoxide generation in chronic
granulomatous disease and giant granules in Chediak-Higashi syndrome.
J. Immunol., 133 : 3006-3009, 1984.
Volpp B.D., Lin Y.
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic
granulomatous disease.
J Clin Invest. 91 : 201-7, 1999.
Weening R.S., de Boer M., Kuijpers T.W., Neefjes M.E., Hack W.W.M., Roos D.
Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.
Clin. Exp. Immunol., 122 : 410-17.
Weening S.S., Leitz G.J., Seger R.A.
Recombinant human interféron-gamma in patients with chronic granulomatous disease. European follow up
study.
Eur. J. Pediatr., 154 : 295-298, 1995.
Weil W.M., Linton G.F., Whiting-Theobald N., Vowells S.J., Rafferty S.P., Li F., Malech H.L.
Genetic correction of p67-phox deficent chronic granulomatous disease using peripheral blood progenitor cells
as a target for retrovirus mediated gene transfer.
Blood., 89 : 1754-61, 1997.
Winkelstein J.A., Marino M.C., Johnston R.B. Jr, Boyle J., Curnutte J., Gallin J.I.,Malech H.L., Holland S.M., Ochs
H., Quie P, Buckley R.H., Foster C.B., Chanock S.J.,Dickler H.
Chronic granulomatous disease. Report on a national registry of 368 patients.
Medicine (Baltimore), 79, 155-169, 2000.
Yamada M., Ariga T., Kawamura M., Ohtsu M., Imajoh-Ohmi S., Ohshika E., Tatsuzawa O., Kobayashi K.,
Sakiyama Y.
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.
Br. J. Haematol ., 108 : 511-517, 2000.
Yoshida L.S., Saruta F., Yoshikawa K., Tatsuzawa O., Tsunawaki S.
Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human
NADPH oxidase.
J Biol Chem. 273 : 27879-86, 1998.
Yu L, Cross AR, Zhen L, Dinauer MC.
Functional analysis of NADPH oxidase in granulocytic cells expressing a delta488-497 gp91(phox) deletion
mutant.
Blood. 94 : 2497-504, 1999.
Zhen L., King A.A., Xiao Y., Chanock S.J., Orkin S.H., Dinauer M.C.
Gene targeting of X chromosome-linked chronic granulomatous disease locus in a human myeloid leukemia cell
line and rescue by expression of recombinant gp91phox.
Proc. Natl. Acad. Sci. USA., 90 : 9832-6, 1993.
http://www.ncbi.nlm.nih.gov/htbinpost/Entrez/query?form=4&db=m&dispmax=50&term=granulomato
us+disease,chronic%5Bmajr%5D