Revisiting Human IL-12R?1 Deficiency A Survey of 141 Patients From 30 Countries
dc.authorid | Emiroğlu, Melike/0000-0003-1307-0246 | |
dc.authorid | Dogu, Figen/0000-0002-7869-4941 | |
dc.authorid | İkinciogullari, Aydan/0000-0003-1145-0843 | |
dc.authorid | Richter, Darko/0000-0002-6559-9056 | |
dc.authorid | Haerynck, Filomeen/0000-0001-9161-7361 | |
dc.authorid | Aksu, Guzide/0000-0003-2714-0903 | |
dc.authorid | Al-muhsen, saleh/0000-0003-3698-9968 | |
dc.authorwosid | Emiroğlu, Melike/AAH-3566-2019 | |
dc.authorwosid | Boisson-Dupuis, Stephanie/AAF-5066-2021 | |
dc.authorwosid | Dogu, Figen/AAI-1316-2020 | |
dc.authorwosid | Casanova, Jean-Laurent/I-3418-2017 | |
dc.authorwosid | Zhang, Wei/HOF-7252-2023 | |
dc.authorwosid | Boyko, Yaryna/AAM-2481-2021 | |
dc.authorwosid | İkinciogullari, Aydan/AAQ-3841-2020 | |
dc.contributor.author | de Beaucoudrey, Ludovic | |
dc.contributor.author | Samarina, Arina | |
dc.contributor.author | Bustamante, Jacinta | |
dc.contributor.author | Cobat, Aurelie | |
dc.contributor.author | Boisson-Dupuis, Stephanie | |
dc.contributor.author | Feinberg, Jacqueline | |
dc.contributor.author | Al-Muhsen, Saleh | |
dc.date.accessioned | 2024-08-04T20:32:36Z | |
dc.date.available | 2024-08-04T20:32:36Z | |
dc.date.issued | 2010 | |
dc.department | İnönü Üniversitesi | en_US |
dc.description.abstract | Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an international survey of 141 patients from 102 kindreds in 30 countries. Among 102 probands, the first infection occurred at a mean age of 2.4 years. In 78 patients, this infection was caused by Bacille Calmette-Guerin (BCG; n = 65), environmental mycobacteria (EM; also known as atypical or nontuberculous mycobacteria) (n = 9) or Mycobacterium tuberculosis (n = 4). Twenty-two of the remaining 24 probands initially presented with nontyphoidal, extraintestinal salmonellosis. Twenty of the 29 genetically affected sibs displayed clinical signs (69%); however 8 remained asymptomatic (27%). Nine nongenotyped sibs with symptoms died. Recurrent BCG infection was diagnosed in 15 cases, recurrent EM in 3 cases, recurrent salmonellosis in 22 patients. Ninety of the 132 symptomatic patients had infections with a single microorganism. Multiple infections were diagnosed in 40 cases, with combined mycobacteriosis and salmonellosis in 36 individuals. BCG disease strongly protected against subsequent EM disease (p = 0.00008). Various other infectious diseases occurred, albeit each rarely, yet candidiasis was reported in 33 of the patients (23%). Ninety-nine patients (70%) survived, with a mean age at last follow-up visit of 12.7 years +/- 9.8 years (range, 0.5-46.4 yr). IL-12R beta 1 deficiency is characterized by childhood-onset mycobacteriosis and salmonellosis, rare recurrences of mycobacterial disease, and more frequent recurrence of salmonellosis. The condition has higher clinical penetrance, broader susceptibility to infections, and less favorable outcome than previously thought. | en_US |
dc.description.sponsorship | Rockefeller University Center for Clinical and Translational Science [5UL1RR024143-03]; Rockefeller University; ANR; PHRC; EU [LHSP-CT-2005-018736]; BNP Paribas Foundation; Dana Foundation; March of Dimes; Fondation pour la Recherche Medicale; Howard Hughes Medical Institute | en_US |
dc.description.sponsorship | The St. Giles Laboratory of Human Genetics of Infectious Diseases is supported by grants from The Rockefeller University Center for Clinical and Translational Science grant number 5UL1RR024143-03, and The Rockefeller University, ANR, PHRC, EU (LHSP-CT-2005-018736), BNP Paribas Foundation, the Dana Foundation, and the March of Dimes. LDB is supported by the Fondation pour la Recherche Medicale as part of the PhD program of Pierre et Marie Curie University (Paris, France). JLC was an International Scholar of the Howard Hughes Medical Institute. | en_US |
dc.identifier.doi | 10.1097/MD.0b013e3181fdd832 | |
dc.identifier.endpage | 402 | en_US |
dc.identifier.issn | 0025-7974 | |
dc.identifier.issn | 1536-5964 | |
dc.identifier.issue | 6 | en_US |
dc.identifier.pmid | 21057261 | en_US |
dc.identifier.scopus | 2-s2.0-78649351360 | en_US |
dc.identifier.scopusquality | Q3 | en_US |
dc.identifier.startpage | 381 | en_US |
dc.identifier.uri | https://doi.org/10.1097/MD.0b013e3181fdd832 | |
dc.identifier.uri | https://hdl.handle.net/11616/95189 | |
dc.identifier.volume | 89 | en_US |
dc.identifier.wos | WOS:000283840300002 | en_US |
dc.identifier.wosquality | Q1 | en_US |
dc.indekslendigikaynak | Web of Science | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.publisher | Lippincott Williams & Wilkins | en_US |
dc.relation.ispartof | Medicine | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Receptor Beta-1 Deficiency | en_US |
dc.subject | Calmette-Guerin Infection | en_US |
dc.subject | Interleukin-12/23 Monoclonal-Antibody | en_US |
dc.subject | Mycobacterium-Avium Infection | en_US |
dc.subject | Interferon-Gamma Receptor | en_US |
dc.subject | T-Helper-Cells | en_US |
dc.subject | Host-Defense | en_US |
dc.subject | Clinical-Features | en_US |
dc.subject | Ifn-Gamma | en_US |
dc.subject | Genetic-Heterogeneity | en_US |
dc.title | Revisiting Human IL-12R?1 Deficiency A Survey of 141 Patients From 30 Countries | en_US |
dc.type | Article | en_US |