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ESID Registry - Working definitions for clinical diagnosis of PID
Since 2011 onwards, the ESID Registry Working Party has initiated a thorough reform of the ESID Registry.
Enhancing the quality of registration in the database is one major axis of improvement. We have thus implemented a quality control process that includes validation of the diagnosis. This has been a very collaborative piece of work (thank you to all the colleagues who contributed to this, see below).
Please make sure to use them and give us any feedback, for this is an ongoing work as knowledge in the field evolves rapidly.
The criteria are available in the following pdf (latest version, now including OMIM and Orpha codes and HPO terms: November, 2019):
The people who contributed to this document are:
Mario Abinun, Michael Albert, Sarah Beaussant Cohen, Matthew Buckland, Jacinta Bustamante, Andrew Cant, Jean-Laurent Casanova, Helen Chapel, Genevieve de Saint Basile, Esther de Vries, Inderjeet Dokal, Jean Donadieu, Anne Durandy, David Edgar, Stephan Ehl, Teresa Espanol, Amos Etzioni, Alain Fischer, Bobby Gaspar, Lukas Gasteiger, Benjamin Gathmann, Richard Gatti, Andrew Gennery, Sofia Grigoriadou, Bodo Grimbacher, Steven Holland, Gritta Janka, Maria Kanariou, Gerhard Kindle, Christoph Klein, Helen Lachmann, Desa Lilic, Nizar Mahlaoui, Ania Manson, Natalia Martinez, Isabelle Meyts, Nicolette Moes, Despina Moshous, Benedicte Neven, Hans Ochs, Capucine Picard, Isabella Quinti, Ellen Renner, Frederic Rieux-Laucat, Peter Robinson, Reinhard Seger, Markus Seidel, Annarosa Soresina, Dominique Stoppa-Lyonnet, Vojtech Thon, Adrian Thrasher, Frank van de Veerdonk, Joris van Montfrans, Anna Villa, Corry Weemaes, Klaus Warnatz, Beata Wolska, and Shen-Yin Zhang.