Molecular basis of autosomal recessive chronic granulomatous disease in Iran

Journal of Clinical Immunology

Volumn 30, Issue 4, 2010, Pages 587-592

  Teimourian, Shahram ^a,b,c   De Boer, Martin ^d   Roos, Dirk ^d  

^a PASTEUR INSTITUTE OF IRAN   (Iran)

^b TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c Khatam University   (Iran)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Autosomal recessive chronic granulomatous disease; Molecular basis

Indexed keywords

LYSINE; METHIONINE; NEUTROPHIL CYTOSOLIC FACTOR 1; P22 PHOX PROTEIN; P47 PHOX PROTEIN; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; UNCLASSIFIED DRUG; CYBA PROTEIN, HUMAN; CYBB PROTEIN, HUMAN; MEMBRANE PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL ASSAY; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; EXON SKIPPING; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC RECOMBINATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; IRAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUTROPHIL; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PSEUDOGENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SPLICE SITE MUTATION; WESTERN BLOTTING; X CHROMOSOME LINKAGE; ETHNOLOGY; FAMILY; GENETICS; GRANULOMATOUS DISEASE, CHRONIC; MUTATION; NUCLEOTIDE SEQUENCE; RECESSIVE GENE;

DNA MUTATIONAL ANALYSIS; FAMILY; GENES, RECESSIVE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; IRAN; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE;

EID: 77956260560     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-010-9421-6     Document Type: Article

References (22)

1. Roos D, Kuijpers TW, Curnutte JT. Chronic granulomatous disease. In: Ochs HD, Smith C I E, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. 2nd ed. New York: Oxford University Press; 2007. p. 525-49.
2. Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D, et al. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. Br J Haematol. 2008;141:848-51.
3. Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, et al. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis. 2010;44:291-9.
4. Nauseef WM. Assembly of the phagocyte NADPH oxidase. Histochem Cell Biol. 2004;122:277-91.
5. Casimir CM, Bu-Ghanim HN, Rodaway AR, Bentley DL, Rowe P, Segal AW. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci U S A. 1991;88:2753-7.
6. Görlach A, Lee PL, Roesler J, Hopkins PJ, Christensen B, Green ED, et al. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease. J Clin Invest. 1997;100:1907-18.
7. Teimourian S, Rezvani Z, Badalzadeh M, Kannengiesser C, Mansouri D, Movahedi M, et al. Molecular diagnosis of X-linked chronic granulomatous disease in Iran. Int J Hematol. 2008;87:398-404.
8. Patiño PJ, Rae J, Noack D, Erickson R, Ding J, de Olarte DG, et al. 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. 1999;94:2505-14.
9. Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR. Molecular analysis of nine new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22-phox. Blood. 2000;96:1106-12.
10. Roos D, de Boer M, Köker MY, Dekker J, Singh-Gupta V, Ahlin A, et al. 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. Hum Mutat. 2006;27:1218-29.
11. Roesler J, Curnutte JT, Rae J, Barrett D, Patiño P, Chanock SJ, et al. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood. 2000;95:2150-6.
12. Dekker J, de Boer M, Roos D. Gene-scan method for the recognition of carriers and patients with p47phox-deficient autosomal recessive chronic granulomatous disease. Exp Hematol. 2001;29:1319-25.
13. Vowells SJ, Fleisher TA, Sekhsaria S, Alling DW, Maguire TE, Malech HL. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr. 1996;128:104-7.
14. Dinauer MC. Chronic granulomatous disease and other disorders of phagocyte function. Hematology Am Soc Hematol Educ Program. 2005:89-95.
15. Noack D, Rae J, Cross AR, Muñoz J, Salmen S, Mendoza JA, et al. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. Hum Genet. 1999;105:460-7.
16. El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, et al. Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunesia. J Hum Genet. 2006;51:887-95.
17. Köker MY, Sanal Ö, de Boer M, Teczan İ, Metin A, Ersoy F, et al. Mutations of chronic granulomatous disease in Turkish families. Eur J Clin Investig. 2007;37:589-95.
18. Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M, et al. Chronic granulomatous disease in Israel: functional and molecular studies of 38 patients. Clin Immunol. 2008;129:103-14.
19. Bakri FG, Martel C, Khuri-Bulos N, Mahafza A, El-Khateeb MS, Al-Wahadneh AM, et al. First report of clinical, functional, and molecular investigation of chronic granulomatous disease in nine Jordanian families. J Clin Immunol. 2009;29:215-30.
20. Köker MY, van Leeuwen K, de Boer M, Çelmeli F, Metin A, Özgür TT, et al. Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease. Eur J Clin Investig. 2009;39:311-9.
21. Van den Berg JM, van Koppen E, Åhlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Kuijpers TW Chronic granulomatous disease: the European experience. PLoS ONE. 2009;4: e5234.
22. Köker MY, Sanal O, van Leeuwen K, de Boer M, Metin A, Patiroǧlu T, et al. Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. Eur J Clin Investig. 2009;39:942-51.