Advertisement

Fifteen Years of the J Project

  • László MaródiEmail author
  • the J Project study group
Letter to Editor
  • 6 Downloads

Over the past 15 years, remarkable progress has been made of clinical care, laboratory diagnosis, and in particular, genetics in the field of primary immunodeficiency diseases (PIDs) [1]. This progress resulted mostly from a better understanding of the relationship between genotype and phenotype variability in patients with “normal” immunity and in those with increased susceptibility to infection, inflammatory and autoimmune disorders, allergy, and cancer [2]. The wondrous unraveling of the human genome sequence by virtue of the human genome project from 1991 to 2004, and later on by other international collaborative projects like HapMap, 1000 genome project, and ENCODE, has opened the way to the rapid development of the field [3]. Introduction of new generation sequencing (NGS), whole genome sequencing (WGS), and whole exome sequencing (WES) in 2010 revolutionized the diagnosis and research of PIDs leading to the discovery of hundreds of novel inborn errors of immunity [4]. Progress...

Notes

Acknowledgments

We thank the members of the JP Steering Committee for ongoing support and commitment to the J Project. We thank PID laboratories in Western Europe and the USA, especially the European Lab in Paris and New York headed by J-L Casanova for their generous help to molecular analysis of samples from PID patients in ECE. The J Project has been supported by educational grants for many years by Biotest Hungaria Kft, Biotest GmbH, later on by Octapharma Nordic, Kedrion and Baxter, and recently by the Shire and Grifols. The close relationship and professional collaboration with the ESID, the JMF, and the FCI were indispensable to run successfully the J Project. We acknowledge the constant interest and intellectual support of the whole PID community all over the world. We thank J-L Casanova and HD Ochs for helpful comments.

Collaborators: Abolhassani, Hassan (Tehran, Iran); Aghamohamaddi, Asghar (Tehran, Iran); Avcin, Tadej (Ljubljana, Slovenia); Bataneant, Michaela (Timisoara, Romania); Belevtsev, Michail (Minsk, Belarus); Bernatowska, Ewa (Warsaw, Poland); Bolkov, Michael (Yekaterinburg, Russia); Bondarenko, Anastasia (Kiev, Ukraine); Caliskaner, Zafer (Konya, Turkey); Chernyshova, Liudmyla (Kiev, Ukraine); Ciznar, Peter (Bratislava, Slovakia); El-Marsafy, Aisha (Cairo, Egypt); Erdős, Melinda (Debrecen, Hungary); Galal, Nereen; (Cairo, Egypt); Guseva, Marina (St. Petersburg, Russia); Iritsyan, Sevan (Yerevan, Armenia); Ismaili-Jaha, Vlora (Pristhina, Kosovo); Kelecic, Jadranka (Zagreb, Croatia); Kondratenko, Irina (Moscow, Russia); Kostyuchenko, Larysa (Lviv, Ukraine); Kovzel, Elena (Astana City, Kazakhstan); Kuli-Lito, Georgina (Tirana, Albania); Lázár, István (Debrecen, Hungary); Litzman, Jiri (Brno, Czech Republic); Mironska, Kristina (Skopje, Republic of Macedonia); Mulaosmanovich, Velma (Sarajevo, Bosnia-Herzegovina); Naumova, Elissaveta (Sofia, Bulgaria); Nashrullayeva, Gulnara (Baku, Azerbaijan); Pac, Malgorzata (Warsaw, Poland); Pagava, Karaman (Tbilisi, Georgia); Pasic, Srdjan (Beograd, Serbia); Pischalnikov, Alexander (Chelyabinsk, Russia); Prokofjeva, Tatjana (Riga, Latvia); Reisli, Ismail (Konya, Turkey); Resaei, Nima (Tehran, Iran); Ress, Krista (Tallin, Estonia); Savchak, Ihor (Lviv, Ukraine); Sciuca, Svetlana (Chisinau, Republic of Moldova); Sediva, Anna (Prague, Czech Republic); Serban, Margit (Timisoara, Romania); Sharapova, Svetlana (Minsk, Belarus); Sitkauskiene, Brigita (Kaunas, Lithuania); Skomska, Malgosia (Warsaw, Poland); Szolnoky, Miklós (Budapest, Hungary); Tóth, Beáta (Debrecen, Hungary); Totolian, Areg (St. Petersburg, Russia); Tuzankina, Irina (Yekaterinburg, Russia); Vamos, Katalin (Budapest, Hungary); Volokha, Alla (Kiev, Ukraine).

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Parvaneh N, Casanova JL, Notarangelo LD, Conley ME. Primary immunodeficiencies: a rapidly evolving story. Allergy Clin Immunol. 2013;131:314–23.CrossRefGoogle Scholar
  2. 2.
    Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38:96–128.CrossRefGoogle Scholar
  3. 3.
    Antonarakis SE. Human genome sequence and variation. In: Speicher MR, Antonarakis SE, Motulsky AG, editors. Vogel and Motulsky’s human genetics: Springer; 2010. p. 31–53.Google Scholar
  4. 4.
    Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138:957–69.CrossRefGoogle Scholar
  5. 5.
    Maródi L, Casanova JL. Primary immunodeficiency diseases: the J Project. Lancet. 2009;373:2179–81.CrossRefGoogle Scholar
  6. 6.
    Maródi L, The J Project Study Group. The creation and progress of the J Project in Eastern and Central Europe. Ann N Y Acad Sci. 2011;1238:65–73.CrossRefGoogle Scholar
  7. 7.
    Horváth Z, Rezaei N, Reisli I, Tuzankina I, Otarbayev N, Popandopulo P, et al. The spread of the J Project. J Clin Immunol. 2013;33:1037–42.CrossRefGoogle Scholar
  8. 8.
    Erdős M, Uzvölgyi E, Nemes Z, Török O, Rákóczi E, Went-Sümegi N, et al. Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. Hum Mutat. 2005;25:506.CrossRefGoogle Scholar
  9. 9.
    Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, et al. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. J Med Genet. 2013;50:567–78.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Dermatology, Venerology and DermatooncologySemmelweis University BudapestBudapestHungary
  2. 2.St. Giles Laboratory of Human Genetics of Infectious DiseasesRockefeller UniversityNew YorkUSA

Personalised recommendations