Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells

Gene

Volumn 497, Issue 1, 2012, Pages 110-115

  Yamada, Masafumi ^a   Okura, Yuka ^a   Suzuki, Yasuto ^b   Fukumura, Shinobu ^c   Miyazaki, Toru ^d   Ikeda, Hisami ^d   Takezaki, Shun Ichiro ^a   Kawamura, Nobuaki ^a   Kobayashi, Ichiro ^a   Ariga, Tadashi ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Kushiro Red Cross Hospital   (Japan)

^c Kushiro City General Hospital   (Japan)

^d JAPANESE RED CROSS SOCIETY   (Japan)

Author keywords

Cytochrome b 558 (CYBB); De novo mutation; Reversion; Somatic mosaicism; X linked chronic granulomatous disease (X CGD)

Indexed keywords

CELL DNA; CYTOCHROME B558; ISONIAZID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2; STEROID;

ADOLESCENT; ANTIBIOTIC THERAPY; ARTICLE; CASE REPORT; CELL POPULATION; CHILD; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; DNA FINGERPRINTING; EMBRYO DEVELOPMENT; FLOW CYTOMETRY; GENE SEQUENCE; GRANULOCYTE; HLA TYPING; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; LIVER ABSCESS; LIVER DYSFUNCTION; LIVER RESECTION; LYMPHADENITIS; MALE; NONSENSE MUTATION; ORAL BIOPSY; PATHOPHYSIOLOGY; PERIANAL ABSCESS; PERIPHERAL BLOOD MONONUCLEAR CELL; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY BURST; SEX CHROMOSOME MOSAICISM; STEROID THERAPY; WILD TYPE; X CHROMOSOME; X LINKED GRANULOMATOUS DISEASE; Y CHROMOSOME;

ADOLESCENT; CHILD, PRESCHOOL; GENES, X-LINKED; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MOSAICISM; MUTATION; NADPH OXIDASE;

EID: 84857800112     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.01.019     Document Type: Article

References (21)

1. Ariga T., et al. 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. Pediatr. Res. 1998, 44:85-92.
2. Ariga T., et al. T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. Blood 2001, 97:2896-2899.
3. Ariga T., et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J. Immunol. 2001, 166:5245-5249.
4. Bustamante J., et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat. Immunol. 2011, 12:213-221.
5. Erickson R.P. Somatic gene mutation and human disease other than cancer: an update. Mutat. Res. 2010, 705:96-106.
6. Frank S.A. Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:1725-1730.
7. Gérard B., et al. Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene). Hum. Mutat. 2001, 18:163-166.
8. Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J. Med. Genet. 2003, 40:721-728.
9. Hui Y.F., et al. Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. Blood 1997, 88:4021-4028.
10. Lun A., et al. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin. Chem. 2002, 48:780-781.
11. Malech H.L., Gallin J.I. Current concepts: immunology. Neutrophils in human diseases. N. Engl. J. Med. 1987, 317:687-694.
12. phox and selective defects in neutrophil NADPH oxidase activity. Blood 2009, 114:3309-3315.
13. Rösen-Wolff A., et al. Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann. Hematol. 2001, 80:113-115.
14. Stephan V., et al. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N. Engl. J. Med. 1996, 335:1563-1567.
15. Tone Y., et al. Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood 2007, 109:1182-1184.
16. Tosato, G., Cohen, J. I., 2007. Generation of Epstein-Barr Virus (EBV)-immortalized B cell lines. Curr. Protoc. Immunol. 76, 7.22.1-7.22.4.
17. Wada T., et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc. Natl. Acad. Sci. U. S. A. 2001, 98:8697-8702.
18. Winkelstein J.A., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 2000, 79:155-169.
19. Wolach B., et al. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. Blood 2005, 105:61-66.
20. Woodman R.C., et al. A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells. Blood 1995, 85:231-241.
21. Yamada M., et al. 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. 2000, 108:511-517.