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WOS: 000329131300012 ; PubMed ID: 24186907 ; Background. Interleukin 12R beta 1 (IL-12R beta 1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon gamma production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12R beta 1 deficiency. Results. Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age +/- standard deviation, 1.5 +/- 7.87 years) than infections with environmental mycobacteria (4.29 +/- 11.9 years), Mycobacterium tuberculosis (4 +/- 3.12 years), or Salmonella species (4.58 +/- 4.17 years) or other rare infections (3 +/- 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guerin. Conclusions. Patients who are deficient in IL-12R beta 1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients. ; Fondo de Investigaciones Sanitarias, Ministerio de Economia y Competitividad [PI06/1031, PI10/01718]; European Regional Development Fund-European Social Fund (FEDER-FSE); Fundacion Canaria de Investigacion y Salud (Canarian government) [INREDCAN 05/06]; Foundation Caja Rural de Canarias-Chil y Naranjo; Universidad de Las Palmas de Gran Canaria; INSERMInstitut National de la Sante et de la Recherche Medicale (Inserm); University Paris Descartes; Rockefeller University; National Center for Research ResourcesUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Center for Research Resources (NCRR); National Center for Advancing Sciences of the National Institutes of Health [8UL1TR000043]; Laboratoire d'Excellence "Integrative Biology of Emerging Infectious Diseases" [ANR-10-LABX-62-IBEID]; European Research Council, Agence Nationale de la RechercheFrench National Research Agency (ANR) [GENCMCD 11-BSV3-005-01]; St Giles Foundation; Candidoser Association; Consejo Nacional de Ciencia y Tecnologia de MexicoConsejo Nacional de Ciencia y Tecnologia (CONACyT) [69992, 182817] ; This work was supported by Fondo de Investigaciones Sanitarias, Ministerio de Economia y Competitividad (grants PI06/1031 and PI10/01718), the European Regional Development Fund-European Social Fund (FEDER-FSE), Fundacion Canaria de Investigacion y Salud (Canarian government; INREDCAN 05/06), Foundation Caja Rural de Canarias-Chil y Naranjo (research prize 2004), Universidad de Las Palmas de Gran Canaria (fellowship to E. H. R), INSERM, University Paris Descartes, Rockefeller University, National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant 8UL1TR000043), Laboratoire d'Excellence "Integrative Biology of Emerging Infectious Diseases" (grant ANR-10-LABX-62-IBEID), the European Research Council, Agence Nationale de la Recherche (grant GENCMCD 11-BSV3-005-01), the St Giles Foundation, the Candidoser Association, and Consejo Nacional de Ciencia y Tecnologia de Mexico (grants 69992 and 182817).