{"doi":"10.1155/2013/323614","title":"Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe<i>Burkholderia cepacia</i>Invasive Infection in an Infant","abstract":"<jats:p>Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of<jats:italic>Burkholderia cepacia</jats:italic>from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT), made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91<jats:sup><jats:italic>phox</jats:italic></jats:sup>expression. In a patient being investigated for unusually severe or recurrent infection, a high index of suspicion of immunodeficiency must be maintained.</jats:p>","journal":"Case Reports in Immunology","year":2013,"id":646553,"datarank":0.20794415416798362,"base_score":1.3862943611198906,"endowment":1.3862943611198906,"self_citation_contribution":0.20794415416798362,"citation_network_contribution":0.0,"self_endowment_contribution":0.20794415416798362,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":3,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":618906,"name":"Nizar Mahlaoui","orcid":"0000-0002-0030-8094","position":1,"is_corresponding":false},{"id":241319,"name":"Carolina Prando","orcid":"0000-0002-9570-9770","position":2,"is_corresponding":false},{"id":1534567,"name":"Lizbeth Blancas Galicia","orcid":null,"position":3,"is_corresponding":false},{"id":1684141,"name":"Marjorie Hubeau","orcid":null,"position":4,"is_corresponding":false},{"id":753326,"name":"Stéphane Blanche","orcid":"0000-0002-2586-0686","position":5,"is_corresponding":false},{"id":1581264,"name":"Capucine Picard","orcid":null,"position":6,"is_corresponding":false},{"id":57373,"name":"Jean-Laurent Casanova","orcid":"0000-0002-7782-4169","position":7,"is_corresponding":false},{"id":241304,"name":"Jacinta Bustamante","orcid":"0000-0002-3439-2482","position":8,"is_corresponding":false},{"id":1684137,"name":"Saul Oswaldo Lugo Reyes","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe<i>Burkholderia cepacia</i>Invasive Infection in an Infant","abstract":"<jats:p>Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by increased susceptibility to bacteria and fungi since early in life, caused by mutations in any of the five genes coding for protein subunits in NADPH oxidase. X-linked variant CGD can be missed during routine evaluation or present later in life due to hypomorphic mutations and a residual superoxide production. The case of a 10-month-old boy who died of pneumonia is reported. The isolation of<jats:italic>Burkholderia cepacia</jats:italic>from his lung, together with a marginally low nitroblue tetrazolium reduction assay (NBT), made us suspect and pursue the molecular diagnosis of CGD. A postmortem genetic analysis finally demonstrated CGD caused by a hypomorphic missense mutation with normal gp91<jats:sup><jats:italic>phox</jats:italic></jats:sup>expression. 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