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Registry WP - Newsletter April 2018

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by Nizar Mahlaoui


Paris, March 2018

Dear friends,

I am pleased to share this ESID Registry newsletter with you as spring is coming.

Primary immunodeficiencies (PIDs) are chronic, lifelong, inherited disorders that result in impaired adaptive and/or innate immune responses caused by mutations in more than 300 currently known genes. Both affected children and adults have an increased susceptibility to recurrent and/or severe life-threatening infections, autoimmunity, inflammation and malignancies. Hence, this field is constantly growing.

As you know, the Registry as one of the major components of our Society is constantly adapting to keep up with these exciting improvements.

On both quantitative and qualitative standpoint, the ESID Registry is the most important PID database worldwide.

Key Points about the ESID Registry
Largest PID database worldwide: more than 30,000 PID patients.
Large network: more than 180 different documenting centers across Europe.
Several research projects are ongoing.
Several dozens of publications since its start, including 22 referenced publications in PubMed since 2014.
The finances of the Registry are secure until 2020.
Join the Registry WP!

  1. Since the total update of the ESID Registry in 2014, there are currently more than 24,000 patients of which 18,000  are validated and alive patients in the NEW system (Level 1).
  2. These patients are documented by more than 180 different centers across Europe.
  3. Altogether, with the patients kept in the OLD system, the ESID registry encompasses more than 30,000 PID patients.
  4. We have achieved a considerable task in producing clinical diagnostic criteria in ensuring that patients lacking a genetic documentation meet the disease definitions set and reviewed by international experts in the field. These criteria are to be used for registration purposes and are aimed at bringing the ESID Registry to the highest level of quality ( There are still some PID diagnoses lacking these criteria. You’re welcome to apply to draft or review these.
  5. Genetic diagnosis has now reached 36% of all registered patients (vs. 70% without a molecular confirmation in 2014 in the OLD registry)!
  6. Genetics Module:
    New fields have been added to the Registry to be able to contact the lab that performed genetic analyses at a later date. More than 80 genetics labs have been included. New developments are under consideration with the ESID Genetic WP.
  7. The designed platform of the Registry is as follows:
  • Level 1 > Basic epidemiological features > Yearly updates on survival and treatment.

Level 1 is mandatory for all centers participating in the registry project and aims at basic epidemiological features with yearly updates on survival and treatment. Clinical diagnostic criteria have been developed for patients lacking a genetic diagnosis allowing an increased level of data quality.
Built-in checks now validate all fields for consistency and completeness, and users are guided through the data entry process. Data on PID diagnosis both clinical and genetic, familial cases, consanguinity, presenting symptoms, diagnostic delay, type of treatments received (allowing a retrospective and prospective data entry as well as follow-up), date of last news, clinical status… are available.
The registry also encompasses data on therapy; especially on Immunoglobulin replacement therapy, which is a lifelong maintained therapy for a majority of patients. 
All patients should be having a follow-up documentation once per year.

  • Level 2 > More detailed clinical and laboratory information for certain disease categories > Centers can choose to participate according to their resources for documentation and scientific interests (unrestricted grant by Shire).
    • Predominantly Antibody deficiencies CRF is open for documentation
    • In the near future, Ataxia-Telangiectasia and Combined Immunodeficiency will be implemented.
  • Level 3 > Platform for projects targeting individual diseases in even more detail > Defined endpoint (number of patients and/or period of observation) > Opportunities for industry collaborations
    • APDS(Novartis-GSK)
    • UnPAD study (Unclassified Predominantly Antibody Deficiency, PI : E. de Vries, unrestricted grant by PPTA): now recruiting
    • SIMCal study (selective IgM Deficiency, PI : E. de Vries): now recruiting
    • FIGARO(HyQVia sub-registry — funded by Baxalta/Shire)
    • EU SCID Newborn screening study (in collaboration with the ESID IEWP, the ESID Clinical WP)
    • Ataxia-Telangiectasia: retrospective study (Prof. Zielen, Prof. Schubert, Frankfurt, Germany)
    • Chest CT in Ab deficient patients: international and interdisciplinary group that works together to improve pulmonary diagnostics in patients with antibody deficiency syndrome (Prof. Baumann, Germany).
    • HLH registry(with the Histiocyte Society)

The primary goal of the HLH Registry is to collect data relevant for assessment of feasibility and design of future interventional studies on the treatment of HLH. This requires a detailed analysis of the target patient population treated by centers potentially participating in such studies. Another important goal of implementing a HLH Registry is to improve the network of physicians collaborating on HLH and to prepare the infrastructure for a future trial. Implementing routines for patient identification (and central notification), diagnostic algorithms and the use of a GCP database that is fully adapted to running interventional clinical trials are important milestones in facilitating the execution of a clinical trial. 

The key objectives of the HLH registry are to:

  • Collect data relevant for the assessment of feasibility and design of future interventional studies on the treatment of HLH
  • Collect data on current standard of care
  • Collect data on current time to transplant
  • Collect data on outcome 1 year after disease manifestation
  • Collect data on international patient recruitment potential for a trial
  • Implement a common database for documenting patients with HLH (also outside the ESID immunodeficiency community)
  • Improve the infrastructure for a future HLH study (diagnostic evaluation, national coordination, documentation)

The very first patients have been included these last weeks.

     8.  Roll-out to other countries:
We have provided India (Chandigarh) & Singapore (on behalf of the Asia-Pacific Society for ImmunoDeficiencies-APSID) with the ESID Registry software. It will help in building valuable interactions and collaborative international studies in the future. Other countries such as Algeria and South Africa are also interested to get the ESID Registry software.

I believe this is important for further international epidemiology and research projects

We also have received enquiries from Brasil, Japan and Peru to participate in the APDS Study.

     9. The ESID Registry is part of the European Reference Network (‘RITA’ ERN).
This is a great opportunity to gather more people across Europe into documenting patients in the Registry, share expertise and knowledge with other rare diseases registries in the scope of RITA.
Unfortunately, this has not lead to more funding to the ESID Registry so far...

    10. Funding of the ESID Registry remains an important issue, though we have been doing better than previous years. The finances of the Registry are secure until the end of 2019. However, with more funding, we would like to launch another round of ESID Registry Grants going to Documenting centres in need of specific funding for improving the documentation of their patients.

    11. Papers using or highlighting the ESID Registry since the previous Newsletter:
        a. Maccari ME et al. Front. Immunol (2018), Disease evolution and response to rapamycin in Activated PI3Kδ Syndrome: the ESID-APDS registry.

        b. Mahlaoui N et al., J Allerg Clin Immunol (2017), Prevalence of primary immunodeficiencies in France is underestimated.  (PMID: 28732644)

        c. Pac M et al., Arch Med Sci. (2017), Gastrointestinal disorders next to respiratory infections as leading symptoms of X-linked agammaglobulinemia                in children - 34-year experience of a single center.  (PMID: 28261296)

        d. Dunogué B et al., Clin Infect Dis. (2017) Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. 
             (PMID: 28362954)

        e. Fischer A et al., J Allerg Clin Immunol, (2017) Autoimmune and inflammatory manifestations occur frequently in primary immunodeficiencies. (                 PMID: 28192146)


Thank you to all contributors to the ESID Registry.

Hope you all have a great spring and summer season.

Best wishes,

Nizar Mahlaoui

ESID Registry WP Chairman,on behalf of the ESID Registry WP Steering Committee Elect (Bodo Grimbacher, Germany - Isabella Quinti, Italy - Matthew Buckland, United Kingdom - Markus Seidel, Austria - Joris van Montfrans, The Netherlands) and Mrs. Jose Drabwell, IPOPI Chairperson, along with the members of the IT team in Freiburg University (Gerhard Kindle, Stephan Rusch and Raphael Scheible).

You can find more information here:

a.         New ESID Registry

b.         Diagnosis criteria

c.          Registry publications

d.         Studies

e.          Documents

f.          Steering Committee

g.         Documenting centers

h.         Old Registry

i.          ESID Database Statistics

j.          Informed patient consents

k.         Contact info


And more about ESID on social media:

Join the ESID Community on Twitter: @ESIDsociety -