{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T13:08:43Z","timestamp":1779887323773,"version":"3.53.1"},"reference-count":52,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,8,25]],"date-time":"2005-08-25T00:00:00Z","timestamp":1124928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedures<\/jats:title><jats:p>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\u2010PCR analysis, followed by genomic DNA or cDNA sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Seven unrelated patients were found to have the X\u2010linked form of CGD (X\u2010CGD). Heterogeneous mutations affected the <jats:italic>CYBB<\/jats:italic> 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\u2010CGD); all had the most common mutation, a \u0394GT deletion in exon 2 of the <jats:italic>NCF1<\/jats:italic> gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X\u2010CGD 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>X\u2010CGD 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\u2010CGD represented 50% of the reported cases, a higher prevalence than reported in other series. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.20455","type":"journal-article","created":{"date-parts":[[2005,8,25]],"date-time":"2005-08-25T21:17:13Z","timestamp":1125004633000},"page":"243-252","source":"Crossref","is-referenced-by-count":43,"title":["Chronic granulomatous disease in Latin American patients: Clinical spectrum and molecular genetics"],"prefix":"10.1002","volume":"46","author":[{"given":"Piedad","family":"Agudelo\u2010Fl\u00f3rez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina Cardoso","family":"Prando\u2010Andrade","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Alvaro","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz Tavares","family":"Costa\u2010Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnoldo","family":"Quezada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco Jose","family":"Espinosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Aparecida","family":"de Souza Paiva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Persio","family":"Roxo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anete","family":"Grumach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina Abe","family":"Jacob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magda Maria Salles","family":"Carneiro\u2010Sampaio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Newburger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Condino\u2010Neto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,20]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"309","article-title":"A fatal granulomatous of childhood: The clinical study of a new syndrome","volume":"40","author":"Berendes H","year":"1957","journal-title":"Minn Med"},{"key":"e_1_2_5_3_2","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1542\/peds.20.3.431","article-title":"A syndrome of recurrent infection and infiltration of the viscera by pigmented lipid histiocytes","volume":"20","author":"Landing BH","year":"1957","journal-title":"Pediatrics"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200005000-00003"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200005000-00004"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.98.4.774"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/327717a0"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198909073211005"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.10.3319"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0952-7915(03)00109-2"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1993.1078"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-5699(96)30060-1"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.mph.0000139455.29962.be"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1006\/clim.1999.4799"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10477"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80316-6"},{"key":"e_1_2_5_18_2","first-page":"77","article-title":"Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g","volume":"97","author":"Boyum A","year":"1968","journal-title":"Scand J Clin Lab Invest Suppl"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2125.1993.tb04174.x"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1089\/jir.1996.16.357"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(99)03018-9"},{"key":"e_1_2_5_22_2","doi-asserted-by":"crossref","first-page":"3006","DOI":"10.4049\/jimmunol.133.6.3006","article-title":"B cell lines as models for inherited phagocytic diseases: Abnormal superoxide generation in chronic granulomatous disease and giant granules in chediak\u2010higashi syndrome","volume":"133","author":"Volkman DJ","year":"1984","journal-title":"J Immunol"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1998.0958"},{"key":"e_1_2_5_24_2","doi-asserted-by":"crossref","first-page":"3548","DOI":"10.1182\/blood.V95.11.3548","article-title":"Interferon\u2010gamma improves splicing efficiency of CYBB gene transcripts in an interferon\u2010responsive variant of chronic granulomatous disease due to a splice site consensus region mutation","volume":"95","author":"Condino\u2010Neto A","year":"2000","journal-title":"Blood"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2000.0347"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1086\/301874"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V87.5.1663.1663"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-472X(00)00646-9"},{"key":"e_1_2_5_29_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.2000.01234.x"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.109112"},{"key":"e_1_2_5_31_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(96)90403-1"},{"key":"e_1_2_5_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-8588(18)30619-1"},{"key":"e_1_2_5_33_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1982.tb09538.x"},{"key":"e_1_2_5_34_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02011110"},{"key":"e_1_2_5_35_2","first-page":"77","article-title":"Oesophageal narrowing in chronic granulomatous disease","volume":"30","author":"Hoeffel JC","year":"1999","journal-title":"Eur J Radiol"},{"key":"e_1_2_5_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0720-048X(97)00049-1"},{"key":"e_1_2_5_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80452-3"},{"key":"e_1_2_5_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(06)80138-1"},{"key":"e_1_2_5_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80460-2"},{"key":"e_1_2_5_40_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.114.2.462"},{"key":"e_1_2_5_41_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199608000-00015"},{"key":"e_1_2_5_42_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-198605020-00030"},{"key":"e_1_2_5_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)39493-0"},{"key":"e_1_2_5_44_2","first-page":"339","article-title":"BCG dissemination in chronic granulomatous disease (CGD)","volume":"58","author":"Hodsagi M","year":"1986","journal-title":"Dev Biol Stand"},{"key":"e_1_2_5_45_2","doi-asserted-by":"publisher","DOI":"10.1177\/000992288402301011"},{"key":"e_1_2_5_46_2","first-page":"821","article-title":"Disseminated BCG infection in a child with chronic granulomatous disease. A case report","volume":"65","author":"Smith PA","year":"1984","journal-title":"S Afr Med J"},{"key":"e_1_2_5_47_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1027335000994"},{"key":"e_1_2_5_48_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1998.tb01535.x"},{"key":"e_1_2_5_49_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3038.2005.00225.x"},{"key":"e_1_2_5_50_2","first-page":"202","article-title":"Mycobacterium bovis dissemination (BCG strain) among immunodeficient brazilian infants","volume":"6","author":"Jacob CM","year":"1996","journal-title":"J Investig Allergol Clin Immunol"},{"key":"e_1_2_5_51_2","doi-asserted-by":"publisher","DOI":"10.1093\/infdis\/162.3.700"},{"key":"e_1_2_5_52_2","doi-asserted-by":"publisher","DOI":"10.1002\/jlb.49.4.380"},{"key":"e_1_2_5_53_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-1759(99)00030-7"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.20455","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.20455","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T08:34:49Z","timestamp":1696754089000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.20455"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12,20]]},"references-count":52,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1002\/pbc.20455"],"URL":"https:\/\/doi.org\/10.1002\/pbc.20455","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,12,20]]}}}