{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T15:55:26Z","timestamp":1781106926695,"version":"3.54.1"},"reference-count":28,"publisher":"National Academy of Sciences","issue":"22","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[1998,10,27]]},"abstract":"<jats:p>\n                    A 3-yr-old female patient exhibited interleukin 12 (IL-12) deficiency that was associated with recurrent episodes of pneumococcal pneumonia with sepsis and other infections in the absence of fevers. The patient\u2019s peripheral blood mononuclear cells (PBMCs) exhibited normal proliferative responses to antigens. Immune responses, including\n                    <jats:italic>in vivo<\/jats:italic>\n                    production of antibodies to diphtheria, tetanus, or pneumococcal antigens, were normal. Ig levels and B cell and T cell phenotypes were also normal. In contrast, IL-12 p70 heterodimer production was undetectable by using supernatants of the patient\u2019s stimulated PBMCs when compared with control cells treated similarly. Although present, interferon \u03b3 (IFN-\u03b3) was reduced. The addition of recombinant IFN-\u03b3 to control cells enhanced the production of IL-12 by up to sixfold. By contrast, IL-12 was undetectable in supernatants of the patient\u2019s cells in the presence of recombinant IFN-\u03b3. IL-12 p40 subunit mRNA by using the patient\u2019s PBMCs after stimulation with\n                    <jats:italic>Staphylococcus aureus<\/jats:italic>\n                    Cowan strain 1 or lipopolysaccharide was also undetectable by reverse transcription\u2013PCR when compared with control cells. Production of IL-2, IL-6, tumor necrosis factor \u03b1, or IFN-\u03b3 of the patient\u2019s PBMCs after appropriate stimulation was observed. This patient has either a defect in\n                    <jats:italic>Staphylococcus aureus<\/jats:italic>\n                    Cowan strain 1-lipopolysaccharide- or staphylococcal enterotoxin A-induced signaling pathways for the activation of IL-12 p40 gene expression, or an abnormality in the IL-12 p40 gene itself.\n                  <\/jats:p>","DOI":"10.1073\/pnas.95.22.13125","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:40:11Z","timestamp":1027680011000},"page":"13125-13129","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":85,"title":["Interleukin 12 deficiency associated with recurrent infections"],"prefix":"10.1073","volume":"95","author":[{"given":"Soichi","family":"Haraguchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noorbibi K.","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Robert P.","family":"Nelson","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Emmanuel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John E.","family":"Duplantier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christodoulos S.","family":"Christodoulou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert A.","family":"Good","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of South Florida College of Medicine\/All Children\u2019s Hospital, 801 Sixth Street South, St. Petersburg, FL 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[1998,10,27]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.171.5.1697"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199006143222406"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.24.10033"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612263352602"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199612263352604"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinids\/24.5.982"},{"key":"e_1_3_3_7_2","volume-title":"Primary Immunodeficiency Diseases: A Molecular and Genetic Approach","author":"Casanova J-L","year":"1998","unstructured":"J-L Casanova, M Newport, A Fischer, M Levin Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, eds D H Ochs, C I E Smith, J M Puck (Oxford Univ. 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