In 2008, researchers from Japan identified an association of a common TERT (telomerase reverse transcriptase) variant with susceptibility to IPF [34]. Numerous Mendelian disorders can be associated with ILD. Watch Cees Smit, introduce his new book "Surviving Hemophilia", telling the story of his road trip through the healthcare system and 45 years of patient advocacy. Idiopathic pulmonary fibrosis (IPF) is the most common and most severe form of ILD, and has thus received the most attention in pulmonary research.

Another IPF GWAS performed by an independent group replicated the MUC5B rs35705950 association, but also suggested the contribution of additional risk alleles located in TOLLIP (Toll-interacting protein) and SPPL2C (signal peptidase-like 2C). Supports annual joint transnational calls for proposal for rare diseases research projects. Among the 189 patients with chronic hypersensitivity pneumonitis and CT scan available, the MUC5B risk polymorphism was associated with the presence of traction bronchiectasis, suggestive of probable UIP (p<0.001), but not with a pattern consistent with definite or possible UIP or presence of radiographic honeycombing [28]. Interestingly, as was observed in the initial MUC5B promoter polymorphism study [9], the odds ratios for loci identified by the 2013 GWAS by Fingerlin et al. In children, successful treatments reported in case reports or short series include methylprednisolone, hydroxychloroquine or azithromycin [61–63]. Interestingly, the increased risk of ILD was restricted to patients with a UIP pattern (41% of the whole RA-ILD group): UIP RA-ILD versus RA-no ILD (OR 6.1, 95% CI 2.9–13.1; p=2.5×10−6) and non-UIP RA-ILD versus RA-no ILD (OR 1.3, 95% CI 0.6–2.8; p=0.46) [29].

Heterozygous mutations in SFTPA2 (surfactant protein A2) or SFTPA1 (surfactant protein A1) have been identified in subjects with FIP and/or lung adenocarcinoma [46, 52].

Conflict of interest: C. Dupin reports personal fees, non-financial support and other from AstraZeneca, Boehringer, GlaxoSmithKline and Novartis, personal fees and other from Chiesi, personal fees from Sanofi, and non-financial support and other from Roche, outside the submitted work. There may be, and those differences can be seen in people’s DNA. Among the six patients with available liver biopsies, the most common abnormality was nodular regenerative hyperplasia (in four patients) [90]. This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.

Although there is no consensus definition, in the research setting FIP is usually defined as a case of ILD in which the patient also has a family history of two or more relatives with ILD [8, 9]. Another team took a similar approach to map the  genetic differences in East Asia. Managed by the Commission's Consumers, Health, Agriculture and Food Executive Agency. Here, we review the current understanding of genetic risk and ILD. Cancer genetic testing, Alzheimer’s disease testing, and cystic fibrosis testing are the most popular screening tests being carried out in Europe. Rare variants associated with ILD are listed in table 2.

A typical UIP pattern on chest CT was initially reported in up to 74% of cases, but was recently found in only 46–55% of cases (figure 1) [76, 86, 88]. The EU supports research into rare diseases through Horizon 2020, the EU Framework Programme for Research and Innovation. We are grateful for the financial support of the EURORDIS website by: This video clip has been produced by Animo Productions with pro bono support of, This website received funding under an operating grant from the European Union’s Health Programme (2014-2020), The voice of rare disease patients in Europe, The international voice of people living with rare diseases. The Enterprise Europe Network is the world’s largest support network for small and medium-sized enterprises (SMEs) with international ambitions. The implicated genes span a wide variety of biological functions, but could be categorised into the following: host defence (MUC5B and ATP11A), cell–cell adhesion (DSP and DPP9) and DNA repair (TERT, TERC and OBFC1) [31, 35–37]. Find out the latest news from the rare disease community!

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