{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:17:14Z","timestamp":1790972234429,"version":"4.1.0"},"reference-count":46,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1097\/md.0b013e31828a01f9","type":"journal-article","created":{"date-parts":[[2013,2,21]],"date-time":"2013-02-21T18:28:49Z","timestamp":1361471329000},"page":"109-122","source":"Crossref","is-referenced-by-count":159,"title":["Inherited IL-12p40 Deficiency"],"prefix":"10.1097","volume":"92","author":[{"given":"Carolina","family":"Prando","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arina","family":"Samarina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Boisson-Dupuis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelie","family":"Cobat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zobaida","family":"AlSum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suliman","family":"Al-Jumaah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sami","family":"Al-Hajjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Husn","family":"Frayha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamoud","family":"Al-Mousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imen","family":"Ben-Mustapha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parisa","family":"Adimi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Feinberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maylis","family":"de Suremain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucile","family":"Janni\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orchid\u00e9e","family":"Filipe-Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nahal","family":"Mansouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Stephan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revathy","family":"Nallusamy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dinakantha S.","family":"Kumararatne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad Reza","family":"Bloorsaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Ben-Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Elloumi-Zghal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jalel","family":"Chemli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihene","family":"Bouguila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Bejaoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emadia","family":"Alaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tariq S.","family":"AlFawaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eman","family":"Al Idrissi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gehad","family":"ElGhazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Pollard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belinda","family":"Murugasu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bee","family":"Wah Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rabih","family":"Halwani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al-Zahrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Al Shehri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mofareh","family":"Al-Zahrani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Bin-Hussain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Alireza","family":"Mahdaviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nima","family":"Parvaneh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davood","family":"Mansouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ridha","family":"Barbouche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Al-Muhsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Laurent","family":"Casanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-6-20210309","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1084\/jem.20052302","article-title":"Tuberculosis in children and adults: two distinct genetic diseases.","volume":"202","author":"Alcais","year":"2005","journal-title":"J Exp Med"},{"key":"R2-6-20210309","first-page":"18","article-title":"Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity Ann N Y Acad Sci.","volume":"1214","author":"Alcais","year":"2010","journal-title":""},{"key":"R3-6-20210309","doi-asserted-by":"crossref","first-page":"1043","DOI":"10.1016\/j.jaci.2008.10.037","article-title":"The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases.","volume":"122","author":"Al-Muhsen","year":"2008","journal-title":"J Allergy Clin Immunol"},{"key":"R4-6-20210309","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1172\/JCI4950","article-title":"Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection.","volume":"102","author":"Altare","year":"1998","journal-title":"J Clin Invest"},{"key":"R6-6-20210309","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ni.1992","article-title":"Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.","volume":"12","author":"Bustamante","year":"2011","journal-title":"Nat Immunol"},{"key":"R7-6-20210309","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.coi.2007.10.005","article-title":"Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases.","volume":"20","author":"Bustamante","year":"2008","journal-title":"Curr Opin Immunol"},{"key":"R8-6-20210309","doi-asserted-by":"crossref","first-page":"e65","DOI":"10.1136\/jmg.2006.043406","article-title":"A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.","volume":"44","author":"Bustamante","year":"2007","journal-title":"J Med Genet"},{"key":"R9-6-20210309","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","article-title":"Genetic dissection of immunity to mycobacteria: the human model.","volume":"20","author":"Casanova","year":"2002","journal-title":"Annu Rev Immunol"},{"key":"R10-6-20210309","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1126\/science.1142963","article-title":"Primary immunodeficiencies: a field in its infancy.","volume":"317","author":"Casanova","year":"2007","journal-title":"Science"},{"key":"R11-6-20210309","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.coi.2007.07.004","article-title":"Interleukin-12 and tuberculosis: an old story revisited.","volume":"19","author":"Cooper","year":"2007","journal-title":"Curr Opin Immunol"},{"key":"R12-6-20210309","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1084\/jem.20080321","article-title":"Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.","volume":"205","author":"de Beaucoudrey","year":"2008","journal-title":"J Exp Med"},{"key":"R14-6-20210309","doi-asserted-by":"crossref","first-page":"2113","DOI":"10.1016\/S0140-6736(04)17552-1","article-title":"Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.","volume":"364","author":"Dorman","year":"2004","journal-title":"Lancet"},{"key":"R15-6-20210309","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1086\/340510","article-title":"Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille calmette-guerin infection.","volume":"185","author":"Elloumi-Zghal","year":"2002","journal-title":"J Infect Dis"},{"key":"R16-6-20210309","doi-asserted-by":"crossref","first-page":"3276","DOI":"10.1002\/eji.200425221","article-title":"Bacillus Calmette Guerin triggers the IL-12IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.","volume":"34","author":"Feinberg","year":"2004","journal-title":"Eur J Immunol"},{"key":"R17-6-20210309","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1182\/blood-2004-02-0584","article-title":"A novel form of complete IL-12IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.","volume":"104","author":"Fieschi","year":"2004","journal-title":"Blood"},{"key":"R18-6-20210309","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1002\/eji.200324038","article-title":"The role of interleukin-12 in human infectious diseases: only a faint signature.","volume":"33","author":"Fieschi","year":"2003","journal-title":"Eur J Immunol"},{"key":"R19-6-20210309","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1084\/jem.20021769","article-title":"Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.","volume":"197","author":"Fieschi","year":"2003","journal-title":"J Exp Med"},{"key":"R20-6-20210309","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.smim.2006.07.010","article-title":"Inborn errors of IL-1223- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.","volume":"18","author":"Filipe-Santos","year":"2006","journal-title":"Semin Immunol"},{"key":"R21-6-20210309","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1084\/jem.20060085","article-title":"X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.","volume":"203","author":"Filipe-Santos","year":"2006","journal-title":"J Exp Med"},{"key":"R23-6-20210309","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmg.2003.017962","article-title":"Estimating the age of rare disease mutations: the example of Triple-A syndrome.","volume":"41","author":"Genin","year":"2004","journal-title":"J Med Genet"},{"key":"R24-6-20210309","first-page":"1272","article-title":"Glocker EO, Frede N, Perro M, Sebire N, Elawad M, Shah N, Grimbacher B. Infant colitis-its in the genes.","volume":"376","year":"2010","journal-title":"Lancet"},{"key":"R25-6-20210309","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S1074-7613(00)80614-7","article-title":"IL-12 acts directly on DC to promote nuclear localization of NF-kappaB and primes DC for IL-12 production.","volume":"9","author":"Grohmann","year":"1998","journal-title":"Immunity"},{"key":"R26-6-20210309","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1056\/NEJMoa1100066","article-title":"IRF8 mutations and human dendritic-cell immunodeficiency.","volume":"365","author":"Hambleton","year":"2011","journal-title":"N Engl J Med"},{"key":"R27-6-20210309","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1084\/jem.20050193","article-title":"Divergent roles of IL-23 and IL-12 in host defense against Klebsiella pneumoniae.","volume":"202","author":"Happel","year":"2005","journal-title":"J Exp Med"},{"key":"R28-6-20210309","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1146\/annurev.immunol.22.012703.104758","article-title":"Discovery and biology of IL-23 and IL-27: related but functionally distinct regulators of inflammation.","volume":"25","author":"Kastelein","year":"2007","journal-title":"Annu Rev Immunol"},{"key":"R29-6-20210309","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1084\/jem.20091669","article-title":"Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines.","volume":"207","author":"Kisand","year":"2010","journal-title":"J Exp Med"},{"key":"R30-6-20210309","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1084\/jem.20110958","article-title":"Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.","volume":"208","author":"Liu","year":"2011","journal-title":"J Exp Med"},{"key":"R31-6-20210309","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1086\/425021","article-title":"Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans.","volume":"190","author":"MacLennan","year":"2004","journal-title":"J Infect Dis"},{"key":"R32-6-20210309","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1007\/s00431-005-1689-9","article-title":"Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.","volume":"164","author":"Mansouri","year":"2005","journal-title":"Eur J Pediatr"},{"key":"R33-6-20210309","doi-asserted-by":"crossref","first-page":"e31","DOI":"10.1086\/432119","article-title":"Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12IL-23 receptor.","volume":"41","author":"Moraes-Vasconcelos","year":"2005","journal-title":"Clin Infect Dis"},{"key":"R34-6-20210309","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1182\/blood-2005-09-3824","article-title":"Proprotein convertase furin is preferentially expressed in T helper 1 cells and regulates interferon gamma.","volume":"108","author":"Pesu","year":"2006","journal-title":"Blood"},{"key":"R35-6-20210309","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1086\/338625","article-title":"Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.","volume":"70","author":"Picard","year":"2002","journal-title":"Am J Hum Genet"},{"key":"R36-6-20210309","doi-asserted-by":"crossref","first-page":"14002","DOI":"10.1073\/pnas.93.24.14002","article-title":"A functional interleukin 12 receptor complex is composed of two beta-type cytokine receptor subunits.","volume":"93","author":"Presky","year":"1996","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R37-6-20210309","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1126\/science.1200439","article-title":"Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.","volume":"332","author":"Puel","year":"2011","journal-title":"Science"},{"key":"R38-6-20210309","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1084\/jem.20091983","article-title":"Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I.","volume":"207","author":"Puel","year":"2010","journal-title":"J Exp Med"},{"key":"R39-6-20210309","first-page":"467","article-title":"Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines Curr Opin Immunol.","volume":"22","author":"Puel","year":"2010","journal-title":""},{"key":"R40-6-20210309","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1093\/tropej\/fmm119","article-title":"Biliary cirrhosis in a child with inherited interleukin-12 deficiency.","volume":"54","author":"Pulickal","year":"2008","journal-title":"J Trop Pediatr"},{"key":"R41-6-20210309","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1097\/INF.0b013e3181f6f78a","article-title":"Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency.","volume":"30","author":"Roesler","year":"2011","journal-title":"Pediatr Infect Dis J"},{"key":"R42-6-20210309","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1111\/j.0105-2896.2005.00227.x","article-title":"Defects in the interferon-gamma and interleukin-12 pathways.","volume":"203","author":"Rosenzweig","year":"2005","journal-title":"Immunol Rev"},{"key":"R43-6-20210309","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1093\/hmg\/ddr029","article-title":"Partial recessive IFN-gammaR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.","volume":"20","author":"Sologuren","year":"2011","journal-title":"Hum Mol Genet"},{"key":"R44-6-20210309","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1109\/CSB.2002.1039332","article-title":"Automated identification of single nucleotide polymorphisms from sequencing data.","volume":"1","author":"Takahashi","year":"2002","journal-title":"Proc IEEE Comput Soc Bioinform Conf"},{"key":"R45-6-20210309","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/nri1001","article-title":"Interleukin-12 and the regulation of innate resistance and adaptive immunity.","volume":"3","author":"Trinchieri","year":"2003","journal-title":"Nat Rev Immunol"},{"key":"R46-6-20210309","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S1074-7613(03)00296-6","article-title":"The IL-12 family of heterodimeric cytokines: new players in the regulation of T cell responses.","volume":"19","author":"Trinchieri","year":"2003","journal-title":"Immunity"},{"key":"R47-6-20210309","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1056\/NEJMoa1100102","article-title":"STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.","volume":"365","author":"van de Veerdonk","year":"2011","journal-title":"N Engl J Med"},{"key":"R48-6-20210309","doi-asserted-by":"crossref","first-page":"e99","DOI":"10.1093\/cid\/ciq215","article-title":"Interleukin-12 receptor beta1 deficiency predisposing to disseminated coccidioidomycosis.","volume":"52","author":"Vinh","year":"2011","journal-title":"Clin Infect Dis"},{"key":"R49-6-20210309","doi-asserted-by":"crossref","first-page":"1729","DOI":"10.1084\/jem.20071987","article-title":"Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.","volume":"205","author":"Vogt","year":"2008","journal-title":"J Exp Med"}],"container-title":["Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MD.0b013e31828a01f9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T03:34:36Z","timestamp":1620963276000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00005792-201303000-00006"}},"subtitle":["Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds"],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":46,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/md.0b013e31828a01f9","relation":{},"ISSN":["0025-7974"],"issn-type":[{"value":"0025-7974","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]}}}