Dr. Antonio Condino-Neto

@article{pmid14647867,

title = {[Glucose-6-phosphate dehydrogenase deficiency with recurrent infections: case report]},

author = {A Rosa-Borges and M G Sampaio and A Condino-Neto and O C Barreto and V Nudelman and M M Carneiro-Sampaio and S A Nogueira and T F Abreu and J Rehder and B T Costa-Carvalho},

doi = {10.2223/jped.243},

issn = {1678-4782},

year  = {2001},

date = {2001-01-01},

journal = {J Pediatr (Rio J)},

volume = {77},

number = {4},

pages = {331--336},

abstract = {OBJECTIVE: To report a case of rare neutrophil functional disorder with clinical and laboratory findings similar to those of chronic granulomatous disease. METHODS: Patient with extremely reduced level of glucose-6-phosphate dehydrogenase and recurrent infections that improved after continuous use of cotrimoxazole. The patient presented leukocytes with defective respiratory burst, similar to what occurs in chronic granulomatous disease. COMMENTS: The diagnosis of glucose-6-phosphate dehydrogenase deficiency in neutrophils should be considered in any patient with hemolytic anemia whose level of G6PD is extremely low or in any patient that presents recurrent infections as differential diagnosis of chronic granulomatous disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid10828042,

title = {Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation},

author = {A Condino-Neto and P E Newburger},

issn = {0006-4971},

year  = {2000},

date = {2000-06-01},

journal = {Blood},

volume = {95},

number = {11},

pages = {3548--3554},

abstract = {X-linked chronic granulomatous disease (CGD) derives from defects in the CYBB gene, which encodes the gp91-phox component of NADPH oxidase. We studied the molecular basis of the disease in a kindred with variant CGD, due to a single base substitution at the sixth position of CYBB first intron. The patients' phagocytes have been shown previously to greatly increase superoxide release in response to interferon-gamma (IFN-gamma) in vitro and in vivo. We examined CYBB gene expression in an Epstein-Barr virus (EBV)-transformed B-cell line from 1 patient in this kindred. These cells showed markedly decreased levels of CYBB transcripts in total RNA (5% of normal) and nuclear RNA (1.4% of normal), despite equal CYBB transcription rates in the CGD and control cells. Incubation with IFN-gamma produced a 3-fold increase in CYBB total messenger RNA (mRNA) levels in the patient's cells, and decreased nuclear transcripts to undetectable levels. Reverse transcriptase-polymerase chain reaction analysis of RNA splicing revealed a preponderance of unspliced CYBB transcripts in the patient's nuclear RNA. In vitro incubation with IFN-gamma increased by 40% the ratio of spliced relative to unspliced CYBB mRNA in nuclei from the CGD B-cell line. Total RNA harvested from the same patient's monocytes, on and off therapy with IFN-gamma, showed a similar improvement in splicing. We conclude that IFN-gamma partially corrects a nuclear processing defect due to the intronic mutation in the CYBB gene in this kindred, most likely by augmentation of nuclear export of normal transcripts, and improvement in the fidelity of splicing at the first intron.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}