Chronic granulomatous disease of childhood: An unusual cause of recurrent uncommon infections in a 61-year-old man

Clinical and Experimental Dermatology

Volumn 36, Issue 7, 2011, Pages 759-762

  Isman Nelkenbaum, G ^a   Wolach, B ^b   Gavrieli, R ^b   Roos, D ^c   Sprecher, E ^a   Bash, E ^a   Gat, A ^a   Sprecher, H ^d   Ben Ami, R ^a   Zeeli, T ^a  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b MEIR MEDICAL CENTER   (Israel)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d RAMBAM MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

HISTIDINE; REACTIVE OXYGEN METABOLITE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; TYROSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; ASPERGILLUS FUMIGATUS; ASPERGILLUS NIDULANS; BACTERIAL INFECTION; BACTERICIDAL ACTIVITY; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; DNA SEQUENCE; HUMAN; HUMAN TISSUE; IMMUNE DEFICIENCY; LEUKOCYTE FUNCTION; MALE; MISSENSE MUTATION; MYCOSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RASH; RECURRENT INFECTION; SEQUENCE ANALYSIS; SKIN BIOPSY; TISSUE CULTURE; WESTERN BLOTTING;

ASPERGILLOSIS; ASPERGILLUS FUMIGATUS; ASPERGILLUS NIDULANS; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION;

EID: 80052968813     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2011.04101.x     Document Type: Article

References (9)

1. Segal BH, Leto TL, Gallin JI, et al. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 2000; 79: 170-200. (Pubitemid 30327531)
2. Roos D, Kuhns DB, Maddalena A, et al.,. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis 2010; 4: 246-65.
3. Segal BH, DeCarlo ES, Kwon-Chung KJ, et al. Aspergillus nidulans infection in chronic granulomatous disease. Medicine (Baltimore) 1998; 77: 345-54. (Pubitemid 28449835)
4. Wolach B, Gavrieli R, de Boer M, et al. Chronic granulomatous disease in Israel. clinical, functional and molecular studies of 38 patients. Clin Immunol 2008; 129: 103-14.
5. Stasia MJ, Lardy B, Maturana A, et al. Molecular and functional characterization of a new X-linked chronic Granulomatous disease variant (X91+) case with a double missense mutation in the gp91-phox cytosolic C-terminal tail. Biochim Biophys Acta 2002; 1586: 316-30. (Pubitemid 34457926)
6. Bionda C, Li XJ, van Bruggen R, et al. Functional analysis of two-amino acid substitutions in gp91phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. Hum Genet 2004; 115: 418-27. (Pubitemid 39341716)
7. Bridges RA, Berendes H, Good RA,. A fatal granulomatous disease of childhood. Am J Dis Child 1959; 97: 387.
8. Wolach B, Scharf Y, Gavrieli R, 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: 61-6. (Pubitemid 40053064)
9. Lewis EM, Singla M, Sergeant S, et al. X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. Clin Immunol 2008; 129: 372-80.