The list of J Project meetings can be downloaded here.
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J Project Meetings 2007
19. Ukraine (Zaporozhye) Liudmyla Chernishova Apr 19-20 (chernyshova@ukr.net) 20. Russia (St. Petersburg) Marina Guseva May 29-30 (gusevamarina@mail.ru) 21. Hungary (Pécs) Bernadett Mosdósi June 22-23 (bernadett.mosdosi@aok.pte.hu) 22. Roman…
Previous J Project Meetings 2004-2006
J Project Meetings in East-Central Europe 2004-2006 Targu Mures, Romania, March 11-12, 2004; Organizer: Csilla Todea Prague, Czech Republic, May 10-11, 2004; Organizer: Anna Sediva Belgrade, Serbia/ Montenegro, June 11-12, 2004; Organizer: Srdjan Pa…
Clinical outcome and quality of life in patients with ARPC1B deficiency managed conservatively or with hematopoietic stem cell transplantation
Dear colleague,
we are promoting a collaborative study to assess clinical outcome and quality of life in patients with ARPC1B deficiency managed conservatively or with hematopoietic stem cell transplantation
Brief rationale of the project:
ARPC1B deficiency results in a combined immunodeficiency, characterized by recurrent infections, allergic manifestations, and platelet abnormalities with bleeding tendency.
Although the only curative therapy currently available is haematopoietic stem cell transplantation (HSCT) there is a lack of data comparing the clinical outcome and quality of life of patients undergoing transplantation or treated conservatively.
In the Details.pdf attached you can find more informations about the project.
If you would like to participate and receive the Clinical Report Form (CRF) or have any questions about the study, please contact us at: arpc1b.study@gmail.com
Link to PDF
UPDATE on the study Genotype-phenotype correlation and resulting treatment decisions in Osteopetrosis
UPDATE on the study Genotype-phenotype correlation and resulting treatment decisions in Osteopetrosis Long time ago Anna launched a study to register osteopetrosis patients retrospectively on behalf of ESID and the IEWP of the EBMT. Information…
Minutes of the IEWP Annual Conference Sep. 22-24, 2023, Graz, Austria
Compiled by: Daniela Sperl, Markus Seidel
The authors and ESID exclude any liability for the content or its correct reproduction in terms of errors or mistakes as well as typos that may have occurred when taking notes.
The Inborn Errors Working Party met for its annual meeting in Graz, Austria at a wonderful venue in the old city called Alte Universität. The program contained cutting-edge scientific advances in the treatment of inborn errors of immunity, metabolism and hematopoiesis. More than 120 participants from all over Europe and as far away as Australia engaged in interactive discussions.
Multicentric retrospective study on JAKinib treatment of patients with IEI of the JAK/STAT pathway
Dear colleagues, We would like to invite you to participate in a retrospective study on JAKinib treatment of patients with genetically defined IEI of the JAK/STAT pathway (e.g. STAT1GOF, STATGOF, JAK1, SOCS1). Untransplanted and transplanted patients across all age ranges are included. The key questions of our study are: (1) Occurrence of JAKinib organ toxcicity according to age, choice of drug, (pediatric) dosing and genetic defect. (2) Occurrence of infections/reactivation and evolution with/without continuation of therapy. (3) Occurrence of minor, yet drug specific and compliance critical, adverse events. (4) Impact of JAKinib treatment on disease symptoms (5) Identification of suitable peritransplant vs. long-term treatment protocols (6) Use, tolerance and benefit of immunomodulatory comedication Data collection is carried out through a CRF, which will be sent out to centers interested in participation of […]
Guidelines for HSCT for autoimmune disorders
Updated conditioning guidelines for HSCT in autoimmune disorders Msword, 26.00 kB…
Genetics WP – May 2022
The Working Party Genetics of the European Society for Immunodeficiencies (ESID) together with the molecular testing working group (WG) of ERN RITA organize a two day workshop on 30-31 May 2022 in the Imagine Institute in Paris. The topic of the workshop is “From high throughput sequencing to diagnosis in immune mediated disorders”.
UPDATED and Published! EBMT/ESID GUIDELINES FOR HAEMATOPOIETIC STEM CELL TRANSPLANTATION FOR PI
EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity The fully revised EBMT/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors…