{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:11:47Z","timestamp":1783653107196,"version":"3.55.0"},"reference-count":21,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Allergy, Immunology, and Pulmonology"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>\n                      Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in \u223c50 patients, usually with onset at childhood with Bacille Calmette-Gu\u00e9rin (BCG) and\n                      <jats:italic toggle=\"yes\">Salmonella<\/jats:italic>\n                      infections.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation:<\/jats:title>\n                    <jats:p>\n                      A male patient born to consanguineous parents was diagnosed with presumed lymph node MSMD at the age of 13 years after ocular symptoms. A positive history of inborn error of immunity was present: BCG reaction, skin abscess, and recurrent oral candidiasis. Abnormal measurements of cytokine levels, IL-12p40 and interferon-gamma (IFN-\u03b3), lead to the diagnosis of MSMD. Genetic analysis showed a mutation in exon 7 of the\n                      <jats:italic toggle=\"yes\">IL12B<\/jats:italic>\n                      gene. Currently, the patient is alive under prophylactic antibiotics.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We report a rare case of IL-12p40 deficiency in a Latin American patient. Medical history was crucial for immune defect suspicion, as confirmed by precision diagnostic medicine tools.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1089\/ped.2022.0206","type":"journal-article","created":{"date-parts":[[2024,3,14]],"date-time":"2024-03-14T16:03:47Z","timestamp":1710432227000},"page":"33-36","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Autosomal Recessive IL-12p40 Deficiency due to a Mutation in the\n                    <i>IL12B<\/i>\n                    Gene: Report of a Brazilian Patient with Lymph Node Mycobacterial Infection"],"prefix":"10.1177","volume":"37","author":[{"given":"Karina Mescouto de","family":"Melo","sequence":"first","affiliation":[{"name":"Unit of Allergy and Immunology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00edlia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fab\u00edola Scancetti","family":"Tavares","sequence":"additional","affiliation":[{"name":"Unit of Allergy and Immunology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00edlia, Brazil."},{"name":"Unit of Children and Adolescents, Hospital Universit\u00e1rio de Bras\u00edlia, Bras\u00edlia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thales Silva","family":"Antunes","sequence":"additional","affiliation":[{"name":"Unit of Allergy and Immunology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00edlia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Condino-Neto","sequence":"additional","affiliation":[{"name":"Department of Immunology, Institute of Biomedical Sciences, University of S\u00e3o Paulo, S\u00e3o Paulo, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gesmar Rodrigues","family":"Silva Segundo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Federal University of Uberlandia Medical School, Uberl\u00e2ndia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ant\u00f4nio Carlos Tanajura de","family":"Macedo","sequence":"additional","affiliation":[{"name":"Unit of Allergy and Immunology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00edlia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre Paz","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Unit of Infectology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00dalia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia Fran\u00e7a Cavalcante","family":"Valente","sequence":"additional","affiliation":[{"name":"Unit of Allergy and Immunology, Hospital da Crian\u00e7a de Bras\u00edlia Jos\u00e9 Alencar, Bras\u00edlia, Brazil."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,3,13]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.smim.2014.09.008"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02120-y"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.631298"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20220094"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e31828a01f9"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1689-9"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cyto.2011.11.005"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.abq5204"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciimmunol.aau6759"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-022-01320-7"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200838535"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-021-00623-0"},{"key":"e_1_3_3_14_2","unstructured":"Fujimura MD. Serum levels of immunoglobulin G (IgG) isotypes in health and nephrotic children [in Portuguese]. Doctoral Thesis. 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