Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease

Background: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal infections. It is caused by mutations in the CYBB gene, which encodes the 91-kD subunit of phagocyte NADPH oxidase. Aim: To identify the mutation in the CYBB gene in two unrelated patients from Chile with, the diagnosis of X-linked CGD and their families. Patients and methods: The molecular genetic defects of two unrelated patients from Chile with X-linked CGD caused by defects in the CYBB gene were investigated. The underlying mutation was investigated by single strand conformation polymorphism (SSCP) analysis of PCR-amplified genomic DNA and by sequencing of the affected gene region. Results: We found an insertion c.1267_1268insA in exon 10 leading to a frameshift mutation. This mutation is a novel report. We also identified a splice site mutation in the other patient, that presented a c.1326 +1 G > A substitution in intron 10. The mutation was also detectable in his heterozygous mother. Conclusions: This is the first report of the clinical and molecular characterization of Chilean patients with mutations in CYBB gene (Rev Med Chile 2006; 134: 965-72).134896597

Isolation of human bone marrow mesenchymal stem cells and evaluation of their osteogenic potential

Las células madre mesenquimatosas de médula ósea humana (abreviadas hBMSCs) constituyen una fuente de células auto-renovables con alto potencial de diferenciación, comúnmente aisladas a partir de los aspirados medulares en huesos largos. Su diferenciación hacia el linaje osteogénico, por ejemplo, ha sido ampliamente utilizada para la evaluación biológica de biomateriales o matrices con aplicaciones en la ingeniería de tejidos óseos. El objetivo de este trabajo consistió en aislar hBMSCs a partir de la cabeza femoral de pacientes sometidos a artroplastia total de cadera, así como evaluar su potencial osteogénico. Brevemente, se extrajo el hueso esponjoso y se disgregó mecánicamente; las células desprendidas se cultivaron y las células no adherentes se eliminaron luego de 4 días. El potencial osteogénico se evaluó en la quinta generación de cultivo, mediante ensayos de diferenciación a 14 y 20 días donde se compararon cultivos con y sin suplementos osteogénicos. La evaluación se realizó mediante tinción con Alizarina Roja y la cuantificación de los niveles de expresión génica de los marcadores osteogénicos colágeno tipo I, osteonectinca y sialoprotiena ósea mediante RT-PCR en tiempo real. Las hBMSCs obtenidas presentaron un fenotipo no-diferenciado estable, así como la capacidad de mineralizar la matriz extracelular y expresar un fenotipo similar al osteoblasto durante la inducción osteogénica. Los tres marcadores evaluados se sobre-expresaron en los cultivos en condiciones osteogénicas, y se encontró que cambios hasta de 2X en sus niveles de expresión son relevantes para el desarrollo del proceso de diferenciación. El modelo de hBMSCS presentado podría ser utilizado para la evaluación in vitro de la osteoinductividad de diferentes biomateriales, moléculas bioactivas o matrices para ingeniería de tejidos.Human bone marrow mesenchymal stem cells (hBMSCs) comprise a cell population capable of self-renewal and multilineage differentiation commonly isolated from bone marrow aspirates of large bones. Their osteogenic potential has been extensively exploited for the biological evaluation of scaffolds or biomaterials with applications in bone tissue engineering. This work aimed to isolate hBMSCs from femoral heads of patients undergoing total hip arthroplasty and to evaluate their osteogenic potential. Briefly, the trabecular bone was extracted and mechanically disaggregated; the released cells were cultured and non-adherent cells were removed after 4 days. The osteogenic potential was evaluated at the fifth passage after 14 and 20 days of induction, comparing cultures with and without osteogenic supplements, via Alizarin red staining and the quantification of the gene expression levels of the osteogenic markers collagen type I, osteonectin and bone sialoprotein through real-time RT-PCR. The obtained hBMSCs presented a stable undifferentiated phenotype after prolonged cell culture, matrix mineralization capabilities and expression of osteoblast phenotype upon osteogenic induction. The three markers were up-regulated in cultures under osteogenic conditions and 2 fold differences in their expression levels were found to be significant for the onset of the differentiation process. The obtained hBMSCs may have applications on the in vitro evaluation of the osteoinductivity of different biomaterials, bioactive molecules or tissue engineering scaffolds

Adolescent pregnancies in the Amazon Basin of Ecuador: a rights and gender approach to adolescents' sexual and reproductive health

In the Andean region of Latin America over one million adolescent girls get pregnant every year. Adolescent pregnancy (AP) has been associated with adverse health and social outcomes, but it has also been favorably viewed as a pathway to adulthood. AP can also be conceptualized as a marker of inequity, since it disproportionately affects girls from the poorest households and those who have not been able to attend school

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

Canine Leptospirosis in a Northwestern Region of Colombia: Serological, Molecular and Epidemiological Factors

Canine leptospirosis is a zoonosis of epidemiological importance. Dogs are recognized as primary reservoirs of Leptospira interrogans serogroup Canicola and a source of infection to the environment through urine. This study aimed to determine the presence of antibodies against Leptospira in canines from 49 municipalities in the Department of Antioquia, Colombia. We performed a cross-sectional study of dogs included in a neutering control program. We collected 1335 sera samples, assayed by a microagglutination test (MAT), and performed PCR detection in 21 urine samples. We also surveyed 903 dog owners. We found a seroreactivity of 11.2% (150/1335) in Antioquia with titers ≥1:50. Municipalities with the highest number of cases were Belmira (46.1%), Turbo (34.5%), and Concepción (31.0%). L. santarosai was identified by phylogenetic analysis in one urine sample from the municipality of Granada. The most important factor associated with a positive result was the lack of vaccination against leptospirosis (PR 3.3, p ≤ 0.014). Environmental factors such as water presence and bare soil around the household were also associated with Leptospira seroreactivity in the Department of Antioquia. We reviewed a national epidemiological surveillance database for human cases in those municipalities. We found a correlation between the high number of cases in canines and humans, especially in the Uraba. Serological and molecular results showed the circulation of Leptospira. Future public health efforts in the municipalities with the highest numbers of seroreactivity should be directed towards vaccination to prevent animal disease and decrease the probability of transmission of Leptospira. Dogs actively participate in the Leptospira cycle in Antioquia and encourage the implementation of vaccination protocols and coverage

The intra- and inter-personal dynamics associated with consuming sensitive products: understanding the consumption of erectile function aids using dimensional qualitative research

Objective: To report the case of two siblings with chronic granulomatous disease. Chronic granulomatous disease is a primary immunodeficiency disorder characterized by abnormal microbicidal activity. Mutations in the p47-phox gene (NCF-1) are present in about 30% of the patients with chronic granulomatous disease; this group presents a better prognosis and later onset of recurrent infections as compared with the X-linked variant, present in about 56% of patients. Description: Case 1 is a female presenting repeat infections since age 10, starting with impetigo followed by severe pneumonia six months later. The severity of the lung infection associated with liver abscess and the patient's resistance to treatment prompted laboratory investigation for immunodeficiency. The results of the nitroblue tetrazolium and superoxide release tests were consistent with a diagnosis of chronic granulomatous disease. The parents and siblings were assessed, revealing the presence of granulomatous disease in a brother (Case 2). He also presented repeat infections with impetigo at age 10, followed by pneumonia six months later, however in a non severe form. Single-strand conformational polymorphism analysis detected abnormal electrophoretic mobility of exon 2 of the NCF-1 gene. Sequence DNA analysis revealed a dinucleotide GT deletion in exon 2. Comments: It is important to evaluate the relatives of chronic granulomatous disease patients, even in the absence of typical clinical signs. Defining the mutation and its correlation with phenotype is important to provide appropriate genetic counseling and clinical prognosis. Copyright © 2004 by Sociedade Brasileira de Pediatria.805425428Curnutte, J.T., Chronic granulomatous disease: The solving of a clinical riddle at the molecular level (1993) Clin Immunol Immunopathol, 67 (3 PART 2), pp. S2-15Winkelstein, J.A., Marino, M.C., Johnston Jr., R.B., Boyle, J., Curnutte, J., Gallin, J.I., Chronic granulomatous disease. Report on a national registry of 368 patients (2000) Medicine, 79 (3), pp. 155-169. , BaltimoreLeusen, J.H., Verhoeven, A.J., Roos, D., Interactions between the components of the human NADPH oxidase: Intrigues in the phox family (1996) J Lab Clin Med, 128, pp. 461-476Renner, W.R., Johnson, J.F., Lichtenstein, J.E., Kirks, D.R., Esophageal inflammation and stricture: Complication of chronic granulomatous disease of childhood (1991) Radiology, 178, pp. 189-191Al-Binali, A.M., Scott, B., Al-Garni, A., Montgomery, M., Robertson, M., Granulomatous pulmonary disease in a child: An unusual presentation of Crohn's disease (2003) Pediatr Pulmonol, 36, pp. 76-80Liese, J., Kloos, S., Jendrossek, V., Petropoulou, T., Wintergerst, U., Notheis, G., Long-term follow-up and outcome of 39 patients with chronic granulomatous disease (2000) J Pediatr, 137, pp. 687-693Conley, M.E., Diagnostic guidelines - An International Consensus document (1999) Clin Immunol, 93, p. 189Ochs, H., Igo, R.P., The NBT slide test: A simple screening method for detecting chronic granulomatous disease and female carriers (1973) J Pediatr, 83, pp. 77-82Segal, B.H., Leto, T.L., Gallin, J.I., Malech, H.L., Holland, S.M., Genetic, biochemical, and clinical features of chronic granulomatous disease (2000) Medicine, 79, pp. 170-200. , BaltimoreBridges, R.A., Berendes, H., Good, R.A., A fatal granulomatous disease of childhood. The clinical, pathological and laboratory features of a new syndrome (1959) Am J Dis Child, 97, pp. 387-408Cross, A.R., Yarchover, J.L., Curnutte, J.T., The superoxide-generating system of human neutrophils possesses a novel diaphorase activity. Evidence for distinct regulation of electron flow within NADPH oxidase by p67-phox and p47-phox (1994) J Biol Chem, 269, pp. 21448-21454Andrade, C.C.P., (2003) Aspectos Clínicos de Pacientes Sob Suspeita de Imunodeficiência Fagocitária, , [dissertação]. Campinas: Universidade Estadual de CampinasHeyworth, P.G., Curnutte, J.T., Rae, J., Noack, D., Roos, D., Van Koppen, E., Hematologically important mutations: X-linked chronic granulomatous disease (second update) (2001) Blood Cells Mol Dis, 27, pp. 16-26Roesler, J., Curnutte, J.T., Rae, J., Barrett, D., Patino, P., Chanock, S.J., Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease (2000) Blood, 95, pp. 2150-2156Vazquez, N., Lehrnbecher, T., Chen, R., Christensen, B.L., Gallin, J.I., Malech, H., Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes (2001) Exp Hematol, 29, pp. 234-243De Boer, M., Singh, V., Dekker, J., Di Rocco, M., Goldblatt, D., Roos, D., Prenatal diagnosis in two families with autosomal, p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1 (2002) Prenat Diagn, 22, pp. 235-24

Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections

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 +/- 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed B-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A(-) variant common in African ethnic groups. the proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. Sequence analysis of genomic DNA showed a 264 G-->A substitution at the 3' splice junction of gp91-phox exon 3. the cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked 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. 75:151-156, 2004. (C) 2004 Wiley-Liss, Inc.Univ Estadual Campinas, Sch Med, Ctr Invest Pediat, BR-13081970 Campinas, SP, BrazilUniv Estadual Campinas, Sch Med, Dept Pediat, BR-13081970 Campinas, SP, BrazilUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, BrazilUniv Massachusetts, Sch Med, Dept Pediat, Worcester, MA USAState Univ Campinas, Sch Med, Dept Med, Div Hematol, Campinas, SP, BrazilUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, BrazilWeb of Scienc

Association Of Glucose-6-phosphate Dehydrogenase Deficiency And X-linkled Chronic Granulomatous Disease In A Child With Anemia And Recurrent Infections

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 ± 2. 1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed B-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G→A mutation, the A- variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. Sequence analysis of genomic DNA showed a 264 G→A substitution at the 3′ splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable of or nonfunctional mutant gp91-phox and to the phenotype of X-linked 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. © 2004 Wiley-Liss, Inc.753151156Curnutte, J.T., Orkin, S.H., Dinauer, M.C., Genetic disorders of phagocyte function (1994) The Molecular Basis of Blood Diseases. 2nd Edition, pp. 493-522. , Stamatoyannopoulos G, Nienttuis A, Majerus P, and Varmus H, editors. Philadelphia: W.B. Saunders CompanyBeutler, E., G6PD deficiency (1994) Blood, 84, pp. 3613-3636Johnston Jr., R.B., Clinical aspects of chronic granulomatous disease (2001) Curr Opin Hematol, 8, pp. 17-22Roos, D., De Boer, M., Kuribayashi, F., Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease (1996) Blood, 87, pp. 1663-1681Cross, A.R., Noack, D., Rae, J., Curnutte, J.T., Heyworth, P.G., Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (first update) (2000) Blood Cells Mol Dis, 26, pp. 561-565Heyworth, P.G., Curnutte, J.T., Rae, J., Hematologically important mutations: X-linked chronic granulomatous disease (second update) (2001) Blood Cells Mol Dis, 27, pp. 16-26Beutler, E., Vulliamy, T.J., Hematologically important mutations: Glucose-6-phosphate dehydrogenase (2002) Blood Cells Mol Dis, 28, pp. 93-103Van Bruggen, R., Bautista, J.M., Petropoulou, T., Deletion of leucine 61 in glucose-6-phosphate dehydrogenase leads to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections (2002) Blood, 100, pp. 1026-1030Roos, D., Van Zwieten, R., Wijnen, J.T., Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections (1999) Blood, 94, pp. 2955-2962Patino, P.J., Perez, J.E., Lopez, J.A., Molecular analysis of chronic granulomatous disease caused by defects in gp91-phox (1999) Hum Mutat, 13, pp. 29-37Saad, S.T., Salles, T.S., Carvalho, M.H., Costa, F.F., Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Brazil (1997) Hum Hered, 47, pp. 17-21Loos, J.A.R.D., Weening, R.S., Houwerzijl, J., Familial deficiency of glutathione reductase in human blood cells (1976) Blood, 48, p. 53Boyun, A., Isolation of mononuclear cells and granulocytes from human blood (1968) Scand J Clin Lab Invest, 21 (SUPPL. 97), pp. 1-77Condino-Neto, A., Newburger, P.E., NADPH oxidase activity and cytochrome b558 content of human Epstein-Barr-virus-transformed B lymphocytes correlate with expression of genes encoding components of the oxidase system (1998) Arch Biochem Biophys, 360, pp. 158-164Condino-Neto, A., Newburger, P.E., Interferon-y improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation (2000) Blood, 95, pp. 3548-3554Beutler, E., Glucose-6-phosphate dehydrogenase deficiency (1983) The Metabolic Basis of Inherited Disease, pp. 1629-1653. , Stambury JBW, Fredrikson DS, Goldstein JL, and Brown MS, editors. New York: McGraw-HillConley, M.E., Notarangelo, L.D., Etzioni, A., Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies) (1999) Clin Immunol, 93, pp. 190-197McCord, J.M., Fridovich, I., Superoxide dismutase. An enzymic function for erythrocuprein (hemocuprein) (1969) J Biol Chem, 244, pp. 6049-6055Maniatis, T., Fritsch, E.F., Sambrook, J., (1990) Molecular Cloning. A Laboratory Manual. 2nd Edition, , Plainview, NY: Cold Spring Harbor Laboratory PressBeutler, E., G6PD: Population genetics and clinical manifestations (1996) Blood Rev, 10, pp. 45-52Compri, M.B., Saad, S.T., Ramalho, A.S., Genetico-epidemiological and molecular investigation of G-6-PD deficiency in a Brazilian community (2000) Cad Saude Publ, 16, pp. 335-342Baehner, R.L., Johnston Jr., R.B., Nathan, D.G., Comparative study of the metabolic and bactericidal characteristics of severely glucose-6-phosphate dehydrogenase-deficient polymorphonuclear leukocytes and leukocytes from children with chronic granulomatous disease (1972) J Reticuloendothel Soc, 12, pp. 150-169Gray, G.R., Stamatoyannopoulos, G., Naiman, S.C., Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase (1973) Lancet, 2, pp. 530-534Corberand, J., De Larrard, B., Vergnes, H., Carriere, J.P., Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl (1978) Am J Clin Pathol, 70, pp. 296-300Bellanti, J.A., Cantz, B.E., Schlegel, R.J., Accelerated decay of glucose 6-phosphate dehydrogenase activity in chronic granulomatous disease (1970) Pediatr Res, 4, pp. 405-411Rutenberg, W.D., Yang, M.C., Doberstyn, E.B., Bellanti, J.A., Multiple leukocyte abnormalities in chronic granulomatous disease: A familial study (1977) Pediatr Res, 11, pp. 158-163Erickson, R.P., Stites, D.P., Fudenberg, H.H., Epstein, C.J., Altered levels of glucose-6-phosphate dehydrogenase stabilizing factors in X-linked chronic granulomatous disease (1972) J Lab Clin Med, 80, pp. 644-65

Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections

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 +/- 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed B-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A(-) variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. Sequence analysis of genomic DNA showed a 264 G-->A substitution at the 3' splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked 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. 75:151-156, 2004. (C) 2004 Wiley-Liss, Inc.75315115

Chronic granulomatous disease in Latin American patients: Clinical spectrum and molecular genetics

Background. Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. The molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components. The aim of this study was to analyze the clinical features and to investigate the molecular genetic defects of Latin American patients with CGD. Procedures. The study included 14 patients. The diagnosis was based on a history of recurrent severe infections, impaired respiratory burst, and the demonstration of an underlying mutation by single strand conformation polymorphism (SSCP) or RT-PCR analysis, followed by genomic DNA or cDNA sequencing. Results. Seven unrelated patients were found to have the X-linked form of CGD (X-CGD). Heterogeneous mutations affected the CYBB gene: two insertions, one substitution, and four splice site defects; two of them are novel. Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a Delta GT deletion in exon 2 of the NCF1 gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X-CGD were more likely to have initial infections before age 2 years and to have inflammatory obstructive granulomas later. None of the patients had severe adverse reactions to BCG immunization. Conclusions. X-CGD patients from Latin America showed a high degree of molecular heterogeneity, including two novel Mutations. Their clinical characteristics included early onset of infections and eventual obstructive granulomas. A47-CGD represented 50% of the reported cases, a higher prevalence than reported in other series.46224325