Carriers of X-linked chronic granulomatous disease at risk

Clinical Immunology

Volumn 130, Issue 2, 2009, Pages 233-

  Roesler, Joachim ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COTRIMOXAZOLE; ITRACONAZOLE;

ASPERGILLOSIS; ASPERGILLUS; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; FEMALE; GENE THERAPY; GENETIC RISK; HETEROZYGOTE; HUMAN; INFECTION PREVENTION; LETTER; LUNG INFECTION; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

ADULT; ANTI-INFECTIVE AGENTS; ANTIFUNGAL AGENTS; ANTIPROTOZOAL AGENTS; ASPERGILLOSIS; EXONS; FEMALE; GENES, X-LINKED; GENETIC COUNSELING; GRANULOMATOUS DISEASE, CHRONIC; HETEROZYGOTE; HUMANS; ITRACONAZOLE; RISK; TRIMETHOPRIM-SULFAMETHOXAZOLE COMBINATION;

EID: 58049092415     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.09.013     Document Type: Letter

References (4)

1. Lewis E.M., Singla M., Sergeant S., Koty P.P., and McPhail L.C. 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)
2. Lun A., Roesler J., and Renz H. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin. Chem. 48 (2002) 780-781
3. Roesler J., Koch A., Porksen G., von B.H., Brenner S., Hahn G., Fischer R., Lorenz N., Gahr M., and Rosen-Wolff A. Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD). J Eval. Clin. Pract. 11 (2005) 513-521
4. Roesler J., Izquierdo J.M., Ryser M., Rosen-Wolff A., Gahr M., Valcarcel J., Lenardo M.J., and Zheng L. Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}™), is the basis for ALPS Ia in a family with duplicated 3′ splice site AG in CD95 intron 5 on one allele. Blood 106 (2005) 1652-1659