{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T12:53:42Z","timestamp":1787921622659,"version":"build-2784847793"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,17]],"date-time":"2004-02-17T00:00:00Z","timestamp":1076976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Patients with severe leukocyte G6PD deficiency may present with impairment of NADPH oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U\/g Hb (normal: 12.1 \u00b1 2.1 U\/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein\u2010Barr virus\u2010transformed B\u2010lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G\u2192A mutation, the A<jats:sup>\u2212<\/jats:sup> variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X\u2010linked CGD. Sequence analysis of genomic DNA showed a 264 G\u2192A substitution at the 3\u2032 splice junction of gp91\u2010<jats:italic>phox<\/jats:italic> exon 3. The cDNA sequence showed a deletion of gp91\u2010<jats:italic>phox<\/jats:italic> exon 3, giving rise to an unstable or nonfunctional mutant gp91\u2010<jats:italic>phox<\/jats:italic> and to the phenotype of X\u2010linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease. Am. J. Hematol. 75:151\u2013156, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10477","type":"journal-article","created":{"date-parts":[[2004,2,18]],"date-time":"2004-02-18T09:01:32Z","timestamp":1077094892000},"page":"151-156","source":"Crossref","is-referenced-by-count":18,"title":["Association of glucose\u20106\u2010phosphate dehydrogenase deficiency and X\u2010linked chronic granulomatous disease in a child with anemia and recurrent infections"],"prefix":"10.1002","volume":"75","author":[{"given":"Piedad","family":"Agudelo\u2010Fl\u00f3rez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz T.","family":"Costa\u2010Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Alvaro 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