{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T02:43:50Z","timestamp":1778813030974,"version":"3.51.4"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,10,15]],"date-time":"2013-10-15T00:00:00Z","timestamp":1381795200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Immunogenetics"],"published-print":{"date-parts":[[2014,1]]},"DOI":"10.1007\/s00251-013-0739-0","type":"journal-article","created":{"date-parts":[[2013,10,14]],"date-time":"2013-10-14T07:36:11Z","timestamp":1381736171000},"page":"67-71","source":"Crossref","is-referenced-by-count":13,"title":["A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients"],"prefix":"10.1007","volume":"66","author":[{"given":"Imen","family":"Ben-Mustapha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meriem","family":"Ben-Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najla","family":"Mekki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etienne","family":"Patin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Harmant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jih\u00e8ne","family":"Bouguila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Elloumi-Zghal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelaziz","family":"Harbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"B\u00e9jaoui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Boughammoura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jalel","family":"Chemli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed-Ridha","family":"Barbouche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,10,15]]},"reference":[{"key":"739_CR1","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1084\/jem.20052302","volume":"202","author":"A Alcais","year":"2005","unstructured":"Alcais A, Fieschi C, Abel L, Casanova JL (2005) Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202:1617\u20131621","journal-title":"J Exp Med"},{"key":"739_CR2","doi-asserted-by":"crossref","first-page":"2035","DOI":"10.1172\/JCI4950","volume":"102","author":"F Altare","year":"1998","unstructured":"Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS (1998) Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. J Clin Invest 102:2035\u20132040","journal-title":"J Clin Invest"},{"key":"739_CR3","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1007\/s10875-013-9863-8","volume":"33","author":"I Ben-Mustapha","year":"2013","unstructured":"Ben-Mustapha I, Ben-Farhat K, Guirat-Dhouib N, Dhemaied E, Largueche B, Ben-Ali M, Chemli J, Bouguila J, Ben-Mansour L, Mellouli F, Khemiri M, Bejaoui M, Barbouche MR (2013) Clinical, immunological and genetic findings of a large Tunisian series of major histocompatibility complex class II deficiency patients. J Clin Immunol 33:865\u2013870","journal-title":"J Clin Immunol"},{"key":"739_CR4","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1126\/science.1224026","volume":"337","author":"D Bogunovic","year":"2012","unstructured":"Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL (2012) Mycobacterial disease and impaired IFN-gamma immunity in humans with inherited ISG15 deficiency. Science 337:1684\u20131688","journal-title":"Science"},{"key":"739_CR5","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1086\/301869","volume":"62","author":"B Brinkmann","year":"1998","unstructured":"Brinkmann B, Klintschar M, Neuhuber F, Huhne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62:1408\u20131415","journal-title":"Am J Hum Genet"},{"key":"739_CR6","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1038\/ni.1992","volume":"12","author":"J Bustamante","year":"2011","unstructured":"Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Janniere L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL (2011) Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat Immunol 12:213\u2013221","journal-title":"Nat Immunol"},{"key":"739_CR7","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1146\/annurev.immunol.20.081501.125851","volume":"20","author":"JL Casanova","year":"2002","unstructured":"Casanova JL, Abel L (2002) Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20:581\u2013620","journal-title":"Annu Rev Immunol"},{"key":"739_CR8","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/MD.0b013e3181fdd832","volume":"89","author":"L Beaucoudrey De","year":"2010","unstructured":"De Beaucoudrey L, Samarina A, Bustamante J et al (2010) Revisiting human IL-12Rbeta1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore) 89:381\u2013402","journal-title":"Medicine (Baltimore)"},{"issue":"10","key":"739_CR9","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1086\/340510","volume":"185","author":"H Elloumi-Zghal","year":"2002","unstructured":"Elloumi-Zghal H, Barbouche MR, Chemli J, B\u00e9jaoui M, Harbi A, Snoussi N, Abdelhak S, Dellagi K (2002) Clinical and genetic heterogeneity of inherited autosomal recessive susceptibility to disseminated Mycobacterium bovis bacille Calmette-Gu\u00e9rin infection. J Infect Dis 185(10):1468\u20131475","journal-title":"J Infect Dis"},{"issue":"3","key":"739_CR10","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1016\/j.jaci.2012.09.025","volume":"131","author":"KR Engelhardt","year":"2013","unstructured":"Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO (2013) Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol 131(3):825\u2013830","journal-title":"J Allergy Clin Immunol"},{"key":"739_CR11","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.smim.2006.07.010","volume":"18","author":"O Filipe-Santos","year":"2006","unstructured":"Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL (2006) Inborn errors of IL-12\/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 18:347\u2013361","journal-title":"Semin Immunol"},{"key":"739_CR12","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1146\/annurev.immunol.16.1.495","volume":"16","author":"MK Gately","year":"1998","unstructured":"Gately MK, Renzetti LM, Magram J, Stern AS, Adorini L, Gubler U, Presky DH (1998) The interleukin-12\/interleukin-12-receptor system: role in normal and pathologic immune responses. Annu Rev Immunol 16:495\u2013521","journal-title":"Annu Rev Immunol"},{"key":"739_CR13","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmg.2003.017962","volume":"41","author":"E Genin","year":"2004","unstructured":"Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L (2004) Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet 41:445\u2013449","journal-title":"J Med Genet"},{"key":"739_CR14","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1056\/NEJMoa1100066","volume":"365","author":"S Hambleton","year":"2011","unstructured":"Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, Menon G, Trouillet C, McDonald D, Carey P, Ginhoux F, Alsina L, Zumwalt TJ, Kong XF, Kumararatne D, Butler K, Hubeau M, Feinberg J, Al-Muhsen S, Cant A, Abel L, Chaussabel D, Doffinger R, Talesnik E, Grumach A, Duarte A, Abarca K, Moraes-Vasconcelos D, Burk D, Berghuis A, Geissmann F, Collin M, Casanova JL, Gros P (2011) IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med 365:127\u2013138","journal-title":"N Engl J Med"},{"key":"739_CR15","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/oxfordjournals.aje.a114524","volume":"125","author":"MJ Khoury","year":"1987","unstructured":"Khoury MJ, Cohen BH, Chase GA, Diamond EL (1987) An epidemiologic approach to the evaluation of the effect of inbreeding on prereproductive mortality. Am J Epidemiol 125:251\u2013262","journal-title":"Am J Epidemiol"},{"key":"739_CR16","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng917","volume":"31","author":"A Kong","year":"2002","unstructured":"Kong A, Gudbjartsson DF, Sainz J, Jonsdottir GM, Gudjonsson SA, Richardsson B, Sigurdardottir S, Barnard J, Hallbeck B, Masson G, Shlien A, Palsson ST, Frigge ML, Thorgeirsson TE, Gulcher JR, Stefansson K (2002) A high-resolution recombination map of the human genome. Nat Genet 31:241\u2013247","journal-title":"Nat Genet"},{"key":"739_CR17","doi-asserted-by":"crossref","first-page":"1755","DOI":"10.1086\/425021","volume":"190","author":"C MacLennan","year":"2004","unstructured":"MacLennan C, Fieschi C, Lammas DA, Picard C, Dorman SE, Sanal O, MacLennan JM, Holland SM, Ottenhoff TH, Casanova JL, Kumararatne DS (2004) Interleukin (IL)-12 and IL-23 are key cytokines for immunity against Salmonella in humans. J Infect Dis 190:1755\u20131757","journal-title":"J Infect Dis"},{"key":"739_CR18","doi-asserted-by":"crossref","first-page":"5108","DOI":"10.1182\/blood-2011-05-352716","volume":"118","author":"M Ouederni","year":"2011","unstructured":"Ouederni M, Vincent QB, Frange P, Touzot F, Scerra S, Bejaoui M, Bousfiha A, Levy Y, Lisowska-Grospierre B, Canioni D, Bruneau J, Debre M, Blanche S, Abel L, Casanova JL, Fischer A, Picard C (2011) Major histocompatibility complex class II expression deficiency caused by a RFXANK founder mutation: a survey of 35 patients. Blood 118:5108\u20135118","journal-title":"Blood"},{"key":"739_CR19","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1086\/338625","volume":"70","author":"C Picard","year":"2002","unstructured":"Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Genin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL (2002) Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. Am J Hum Genet 70:336\u2013348","journal-title":"Am J Hum Genet"},{"key":"739_CR20","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1097\/MD.0b013e31828a01f9","volume":"92","author":"C Prando","year":"2013","unstructured":"Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Janniere L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL (2013) Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore) 92:109\u2013122","journal-title":"Medicine (Baltimore)"},{"key":"739_CR21","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1126\/science.1200439","volume":"332","author":"A Puel","year":"2011","unstructured":"Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, Gumbleton M, Toulon A, Bodemer C, El-Baghdadi J, Whitters M, Paradis T, Brooks J, Collins M, Wolfman NM, Al-Muhsen S, Galicchio M, Abel L, Picard C, Casanova JL (2011) Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332:65\u201368","journal-title":"Science"},{"key":"739_CR22","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.a.33771","volume":"155A","author":"L Romdhane","year":"2011","unstructured":"Romdhane L, Abdelhak S (2011) Genetic diseases in the Tunisian population. Am J Med Genet A 155A:238\u2013267","journal-title":"Am J Med Genet A"},{"key":"739_CR23","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1742-4755-6-17","volume":"6","author":"GO Tadmouri","year":"2009","unstructured":"Tadmouri GO, Nair P, Obeid T, Al Ali MT, Al Khaja N, Hamamy HA (2009) Consanguinity and reproductive health among Arabs. Reprod Health 6:17","journal-title":"Reprod Health"},{"key":"739_CR24","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1111\/j.1348-0421.2000.tb02599.x","volume":"44","author":"S Torigo","year":"2000","unstructured":"Torigo S, Ihara T, Kamiya H (2000) IL-12, IFN-gamma, and TNF-alpha released from mononuclear cells inhibit the spread of varicella-zoster virus at an early stage of varicella. Microbiol Immunol 44:1027\u20131031","journal-title":"Microbiol Immunol"},{"key":"739_CR25","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0065-2776(08)60387-9","volume":"70","author":"G Trinchieri","year":"1998","unstructured":"Trinchieri G (1998) Interleukin-12: a cytokine at the interface of inflammation and immunity. Adv Immunol 70:83\u2013243","journal-title":"Adv Immunol"}],"container-title":["Immunogenetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00251-013-0739-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00251-013-0739-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00251-013-0739-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,30]],"date-time":"2019-07-30T20:05:51Z","timestamp":1564517151000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00251-013-0739-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,15]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["739"],"URL":"https:\/\/doi.org\/10.1007\/s00251-013-0739-0","relation":{},"ISSN":["0093-7711","1432-1211"],"issn-type":[{"value":"0093-7711","type":"print"},{"value":"1432-1211","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,15]]}}}