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Skip to main content Advertisement Menu Search Search Publisher main menu Journals Submissions Publishing services About My Account Follow BioMed Central Twitter Facebook Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases main menu Home About Articles The official journal of Orphanet, the portal for rare diseases and orphan drugs. Featured review: Immunosuppressive drugs and fertility Immunosuppressive drugs are used in the treatment of inflammatory and autoimmune diseases, as well as in transplantation. Frequently prescribed in young people, these treatments may have deleterious effects on fertility, pregnancy outcomes and the unborn child. This review aims to summarize the main gonadal side effects of immunosuppressants, to detail the effects on fertility and pregnancy of each class of drug, and to provide recommendations on the management of patients who are seen prior to starting or who are already receiving immunosuppressive treatment, allowing them in due course to bear children. Read More Articles Recent Most accessed Recent articles Recent articles RSS 1. Letter to the Editor Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype Guoping Peng, Ping Liu, Fangping He and Benyan Luo Published on: 6 February 2016 2. Research The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study Maria D. Karaceper, Pranesh Chakraborty, Doug Coyle, Kumanan Wilson, Jonathan B. Kronick, Steven Hawken, Christine Davies, Marni Brownell, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Anne-Marie Laberge, Aizeddin Mhanni, Fiona A. Miller… Published on: 3 February 2016 3. Research Extrathoracic investigation in adult patients with isolated pulmonary langerhans cell histiocytosis Abdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre and Sylvie Chevret Published on: 2 February 2016 4. Research The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value? Karen Anjema, Floris C. Hofstede, Annet M. Bosch, M. Estela Rubio–Gozalbo, Maaike C. de Vries, Carolien C.A. Boelen, Margreet van Rijn and Francjan J. van Spronsen Published on: 29 January 2016 5. Review Gingival fibromatosis: clinical, molecular and therapeutic issues Katarzyna Gawron, Katarzyna Łazarz-Bartyzel, Jan Potempa and Maria ChomyszynGajewska Published on: 27 January 2016 View all articles Most accessed articles Most accessed articles RSS 1. Review Beta-thalassemia Renzo Galanello and Raffaella Origa Published on: 21 May 2010 2. Review Toxic epidermal necrolysis and Stevens-Johnson syndrome Thomas Harr and Lars E French Published on: 16 December 2010 3. Review A review of trisomy X (47,XXX) Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson Published on: 11 May 2010 4. Review IgG4- related disease: an orphan disease with many faces Herwig Pieringer, Ilse Parzer, Adelheid Wöhrer, Petra Reis, Bastian Oppl and Jochen Zwerina Published on: 16 July 2014 5. Review Congenital hypothyroidism Maynika V Rastogi and Stephen H LaFranchi Published on: 10 June 2010 View all articles Review series Living with a rare disease Collection published: 18 February 2015 View more series Tweets Aims and scope Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. Editor-in-chief Ségolène Aymé, Hopital Broussais, INSERM About Orphanet Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services: An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications. An encyclopedia of rare diseases in six languages. An inventory of orphan drugs at all stages of development, from EMA (European Medicines Agency) orphan designation to European market authorization. A directory of specialised services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network. An assistance-to-diagnosis tool allowing users to search by signs and symptoms. An encyclopedia of recommendations and guidelines for emergency medical care. A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French. A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website. Free access to Orphanet data for research purpose is available at www.orphadata.org. About the EC Expert Group on Rare Diseases The European Commission has supported the development and implementation of European public health policy since 2004 through three successive multi-stakeholder forums: the Rare Disease Task Force (2004-2009), the European Union Committee of Experts on Rare Diseases (EUCERD, 2009-2013), and the Commission Expert Group on Rare Diseases (2014). During its mandate, the EUCERD published a number of recommendations and reports, as well as an annual report on the State of the Art of Rare Disease Activities in Europe, providing detailed information on the activities in the field at both European and Member State level. A review of the achievements of the EUCERD was published in OJRD to mark Rare Disease Day 2014. The Commission Expert Group on Rare Diseases, established via Commission Decision of 30 July 2013 (2013/C 219/04), continues the work of the EUCERD. The Expert Group brings together stakeholders in the field of rare diseases and representatives of the EU Member States to: Assist the European Commission with the preparation and implementation of community activities in the field of rare diseases, including drawing up guidelines and recommendations; Foster exchanges of experience, policies and practices between specialised bodies at member state level, European authorities in the fields of research and public health, and stakeholder groups. The reports and recommendations issued by the Expert Group are available online. 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