Registry Publications

List of publications

The following is a list of publications with participation of the ESID Registry, listed chronologically, starting with the latest publication.

2025

Machine learning-assisted diagnosis classification of primary immune dysregulation using IDDA2.1 phenotype profiling. Schwitzkowski M, Kumar Veeranki SP, Seidel BN, Kindle G, Rusch S; ESID Registry Working Party; Kramer D, Seidel MG. J Allergy Clin Immunol. 2025 Nov 5:S0091-6749(25)01112-1.  Online ahead of print. PMID: 41202990 doi: 10.1016/j.jaci.2025.10.022.

Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients. Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland, J. David Edgar, Benjamin Gathmann, Sujal Ghosh, Antonios Gkantaras, Alexandra Nieters, Claudio Pignata, Peter N. Robinson, Stephan Rusch, Catharina Schuetz, Svetlana Sharapova, Benjamin Shillitoe, Fabio Candotti, Andrew J. Cant, Jean-Laurent Casanova, Amos Etzioni, Alain Fischer, Isabelle Meyts, Luigi D. Notarangelo, Martine Pergent, C.I. Edvard Smith, ESID Registry Working Party, Lennart Hammarström, Bodo Grimbacher, Mikko R.J. Seppänen, Nizar Mahlaoui, Stephan Ehl, Markus G. Seidel;  J Hum Immun 1 September 2025; 1 (3): e20250007. doi: https://doi.org/10.70962/jhi.20250007

Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally-controlled study. Whalen J, Chandra A, Kracker S, Ehl S, Seidel MG, Gulas I, Dron L, Velummailum R, Nagamuthu C, Liu S, Tutein Nolthenius J, Maccari ME; European Society for Immunodeficiencies (ESID)-APDS Registry Working Party. Clin Exp Immunol. 2024 Dec 2:uxae107. doi: 10.1093/cei/uxae107. Online ahead of print. PMID: 39673396

2024

Karbiener M, Kindle G, Meyts I, Seppänen MRJ, Candotti F, Kamieniak M, Ilk R, Kreil TR, Seidel MG; ESID‐COVID Consortium. Clinical efficacy of SARS-CoV-2 Omicron-neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency. J Med Virol. 2024 Jun;96(6):e29738. doi: 10.1002/jmv.29738. PMID: 38884390.

Vakkilainen S, Ahonen K; USIDNET study group; ESID study group; Mäkitie O; ESID. Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia. J Clin Immunol. 2024 Apr 27;44(5):115. doi: 10.1007/s10875-024-01714-9. PMID: 38676846

2023

Stapornwongkul C, Nieters A, Staus P, Rusch S, Delor A, Baumann U, Wehrle J, Boerries M, Seidel MG, Grimbacher B, Kindle G. Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases. J Health Monit. 2023 Dec 13;8(4):24-30. doi: 10.25646/11732. PMID: 38235015; PMCID: PMC10790410.

Cynthia Stapornwongkul, Alexandra Nieters, Paulina Staus, Stephan Rusch, Anita Delor, Ulrich Baumann, Julius Wehrle, Melanie Boerries, Markus G. Seidel*, Bodo Grimbacher, Gerhard Kindle.  Forschung zu Seltenen Erkrankungen in Deutschland – Das GAIN-Register: Ein Register für Personen mit angeborenen Multi-Organ-Autoimmunerkrankungen [GERMAN], * Im Namen der ESID Registry Working Party https://esid.org/working-parties/registry-working-party/ Journal of Health Monitoring · 2023 8(4), DOI 10.25646/11707, Robert Koch-Institut, Berlin

Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study. J Allergy Clin Immunol. 2023 Nov 5:S0091-6749(23)01390-8. doi: 10.1016/j.jaci.2023.10.018. Epub ahead of print. PMID: 37935260.

Raphael Scheible, Stephan Rusch, Maria Elena Maccari, Markus G. Seidel – on behalf of the ESID Registry Working Party, Stephan Ehl, Alexandra Nieters, Gerhard Kindle,  Json2Xlsx: Extraction and visualization of nested data in a sparse spreadsheet, Software Impacts, Volume 18, 100588

Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D’Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ , Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. PMID: 37390899

Staus P, Rusch S, El-Helou S, Müller G, Krausz M, Geisen U, Caballero-Oteyza A, Krüger R, Bakhtiar S, Lee-Kirsch MA, Fasshauer M, Baumann U, Hoyer BF, Farela Neves J, Borte M, Carrabba M, Hauck F, Ehl S, Bader P, von Bernuth H, Atschekzei F, Seppänen MRJ, Warnatz K, Nieters A, Kindle G, Grimbacher B. The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation. J Clin Immunol. 2023 Aug;43(6):1289-1301. doi: 10.1007/s10875-023-01472-0. Epub 2023 Apr 21. PMID: 37084016; PMCID: PMC10119522.

García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. J Exp Med. 2023 May 1;220(5):e20220170. doi: 10.1084/jem.20220170. Epub 2023 Mar 3. PMID: 36880831; PMCID: PMC9998661.

2022

Abolhassani H, Avcin T, Bahceciler N, Balashov D, Bata Z, Bataneant M, Belevtsev M, Bernatowska E, Bidló J, Blazsó P, Boisson B, Bolkov M, Bondarenko A, Boyarchuk O, Bundschu A, Casanova JL, Chernishova L, Ciznar P, Csürke I, Erdős M, Farkas H, Fomina DS, Galal N, Goda V, Guner SN, Hauser P, Ilyina NI, Iremadze T, Iritsyan S, Ismaili-Jaha V, Jesenak M, Kelecic J, Keles S, Kindle G, Kondratenko IV, Kostyuchenko L, Kovzel E, Kriván G, Kuli-Lito G, Kumánovics G, Kurjane N, Latysheva EA, Latysheva TV, Lázár I, Markelj G, Markovic M, Maródi L, Mammadova V, Medvecz M, Miltner N, Mironska K, Modell F, Modell V, Mosdósi B, Mukhina AA, Murdjeva M, Műzes G, Nabieva U, Nasrullayeva G, Naumova E, Nagy K, Onozó B, Orozbekova B, Pac M, Pagava K, Pampura AN, Pasic S, Petrosyan M, Petrovic G, Pocek L, Prodeus AP, Reisli I, Ress K, Rezaei N, Rodina YA, Rumyantsev AG, Sciuca S, Sediva A, Serban M, Sharapova S, Shcherbina A, Sitkauskiene B, Snimshchikova I, Spahiu-Konjusha S, Szolnoky M, Szűcs G, Toplak N, Tóth B, Tsyvkina G, Tuzankina I, Vlasova E, Volokha A. Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021. Front Immunol. 2022 Dec 16;13:1032358. doi: 10.3389/fimmu.2022.1032358. PMID: 36605210; PMCID: PMC9809467.

Ryan P, Redenbaugh V, McGucken J, Kindle G, Devlin LA, Coulter T, Buckland MS, Seppänen MRJ, Conlon NP, Feighery C, Edgar JDM. Correction to: Inborn Errors of Immunity on the Island of Ireland – a Cross‑Jurisdictional UKPID/ESID Registry Report. J Clin Immunol. 2022 Aug;42(6):1300. doi:10.1007/s10875-022-01306-5. Erratum for: J Clin Immunol. 2022 Aug;42(6):1293-1299. PMID: 35731325; PMCID: PMC9537215.

Ryan P, Redenbaugh V, McGucken J, Kindle G, Devlin LA, Coulter T, Buckland MS, Seppänen MRJ, Conlon NP, Feighery C, Edgar JDM. Inborn Errors of Immunity on the Island of Ireland – a Cross-Jurisdictional UKPID/ESID Registry Report. J Clin Immunol. 2022 May 23:1–7. doi: 10.1007/s10875-022-01274-w. Epub ahead of print. PMID: 35604475; PMCID: PMC9125543

Alligon M, Mahlaoui N, Courteille V, Costes L, Afonso V, Randrianomenjanahary P, de Vergnes N, Ranohavimparany A, Vo D, Hafsa I, Bach P, Benoit V, Garcelon N, Fischer A; members of the CEREDIH French PID study group. An appraisal of the frequency and severity of noninfectious manifestations in primary immunodeficiencies: A study of a national retrospective cohort of 1375 patients over 10 years. J Allergy Clin Immunol. 2022 Jan 12:S0091-6749(22)00039-2. doi: 10.1016/j.jaci.2021.12.790. Epub ahead of print. PMID: 35031273.

2021

Yang L, Booth C, Speckmann C, Seidel MG, Worth AJ, Kindle G, Lankester AC, B G; ESID Clinical and Registry Working Parties, Gennery AR, Seppanen MR, Morris EC, Burns SO. Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency. J Allergy Clin Immunol. 2021 Dec 14:S0091-6749(21)02597-5. doi: 10.1016/j.jaci.2021.10.037. Epub ahead of print. PMID: 34920033.

Zielen S, Duecker RP, Woelke S, Donath H, Bakhtiar S, Buecker A, Kreyenberg H, Huenecke S, Bader P, Mahlaoui N, Ehl S, El-Helou SM, Pietrucha B, Plebani A, van der Flier M, van Aerde K, Kilic SS, Reda SM, Kostyuchenko L, McDermott E, Galal N, Pignata C, Pérez JLS, Laws HJ, Niehues T, Kutukculer N, Seidel MG, Marques L, Ciznar P, Edgar JDM, Soler-Palacín P, von Bernuth H, Krueger R, Meyts I, Baumann U, Kanariou M, Grimbacher B, Hauck F, Graf D, Granado LIG, Prader S, Reisli I, Slatter M, Rodríguez-Gallego C, Arkwright PD, Bethune C, Deripapa E, Sharapova SO, Lehmberg K, Davies EG, Schuetz C, Kindle G, Schubert R. Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia. J Clin Immunol. 2021 Sep 3. doi: 10.1007/s10875-021-01090-8. Epub 2021 Sep 3. PMID: 34477998.

Dedieu C, Albert MH, Mahlaoui N, Hauck F, Hedrich C, Baumann U, Warnatz K, Roesler J, Speckmann C, Schulte J, Fischer A, Blanche S, von Bernuth H, Kühl JS. Outcome of chronic granulomatous disease – Conventional treatment vs stem cell transplantation. Pediatr Allergy Immunol. 2021 Apr;32(3):576-585. doi: 10.1111/pai.13402. Epub 2020 Nov 22. PMID: 33118209.

Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; ESID Registry Working Party (additional members of this working group who have contributed as authors to this manuscript are listed in the online version). Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations. J Allergy Clin Immunol. 2021 Apr 22:S0091-6749(21)00654-0. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. PMID: 33895260

2020

Scheible R, Kadioglu D, Ehl S, Blum M, Boeker M, Folz M, Grimbacher B, Göbel J, Klein C, Nieters A, Rusch S, Kindle G, Storf H. Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry. JMIR Med Inform. 2020 Oct 7;8(10):e17420. doi: 10.2196/17420. PMID: 33026355; PMCID: PMC7578818.

Shai S, Perez-Becker R, Andres O, Bakhtiar S, Bauman U, von Bernuth H, Classen CF, Dückers G, El-Helou SM, Gangfuß A, Ghosh S, Grimbacher B, Hauck F, Hoenig M, Husain RA, Kindle G, Kipfmueller F, Klemann C, Krüger R, Lainka E, Lehmberg K, Lohrmann F, Morbach H, Naumann-Bartsch N, Oommen PT, Schulz A, Seidemann K, Speckmann C, Sykora KW, von Kries R, Niehues T. Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie. J Clin Immunol. 2020 Jul;40(5):708-717. doi: 10.1007/s10875-020-00782-x. Epub 2020 May 26. PMID: 32458183.

Gasteiger LM, Robinson PN, Pazmandi J, Boztug K, Seppänen MRJ, Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID). Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms. J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019. PMID: 32389282

Tesch, Victoria Katharina et al., Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27. PMID: 31887391

2019

Scheible R, Rusch S, Guzman D, Mahlaoui N, Ehl S, Kindle G., Bioinformatics. 2019 Dec 15;35(24):5367-5369. doi: 10.1093/bioinformatics/btz525.  The NEW ESID Online Database Network. PMID: 31263866

El-Helou SM, et al., Front. Immunol., 19 July 2019, The German National Registry of Primary Immunodeficiencies (2012-2017). PMID: 31379802

Seidel MG, Kindle G, Gathmann B, et al., J Allergy Clin Immunol Pract. 2019 Jul – Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15,  The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. PMID: 30776527

Lisanne M.A. Janssen, Roeland W.N.M. van Hout, Esther de Vries, The SIMcal consortium. Challenges in investigating patients with isolated decreased serum IgM – The SIMcal study. Scand J Immunol. 2019 Mar 18:e12763. doi: 10.1111/sji.12763. Epub 2019 Apr 25.

Mahlaoui N, Picard C, Bach P et al. , J Allergy Clin Immunol. 2019 Jan 9. pii: S0091-6749(19)30004-1. doi: 10.1016/j.jaci.2018.12.994. [Epub 2019 Jan 9.] Genetic diagnosis of primary immunodeficiencies: a survey of the French national registry. PMID: 30639347

2018

Schütz, K., Alecsandru, D., Grimbacher, B. et al. J Clin Immunol (2018) Dec 13. doi: 10.1007/s10875-018-0577-9. [Epub 2018 Dec 13], Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group. PMID 30547383

Odnoletkova I, Kindle G, Quinti I, Grimbacher B, Knerr V, Gathmann B, Ehl S, Mahlaoui N, Van Wilder P, Bogaerts K, de Vries E; Plasma Protein Therapeutics Association (PPTA) Taskforce. Orphanet J Rare Dis. 2018 Nov 12;13(1):201.  The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data. (PMID: 30419968)

Lowe DM, Hurst JR. Primary immunodeficiency. In: Chalmers JD, Polverino E, Aliberti S, eds. Bronchiectasis (ERS Monograph). Sheffield, European Respiratory Society, 2018; pp. 153–166 [ https://doi.org/10.1183/2312508X.10015917].

Shillitoe B et al., Clinical & Experimental Immunology (2018), The United Kingdom Primary Immune Deficiency (UKPID) registry 2012 to 2017.  (direct link to article)  (PMID: 29878323 [Available on 2019-06-01])

Maccari ME et al., Frontiers in Immunology (2018), Disease evolution and response to rapamycin in Activated PI3Kδ Syndrome: the ESID-APDS registry.  (PMID: 29599784)

2017

Mahlaoui N et al., JACI (2017), Prevalence of primary immunodeficiencies in France is underestimated.  (PMID: 28732644)

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)

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

Fischer A et al., JACI, (2017) Autoimmune and inflammatory manifestations occur frequently in primary immunodeficiencies. ( PMID: 28192146)

2016

Bertinchamp R et al. (Adult DEFI study group). J Allergy Clin Immunol Pract. (2016), Exclusion of Patients with a Severe T-Cell Defect Improves the Definition of Common Variable Immunodeficiency. (PMID: 27522107).

Arslan S Ann Allergy Asthma Immunol. (2016), How effective are the 6 European Society of Immunodeficiency warning signs for primary immunodeficiency disease? (PMID: 26815708)

De Vries E. et al. Orphanet J Rare Dis (2016), Primary immunodeficiency associated with chromosomal aberration – an ESID Survey. (PMID: 27484815)

Barlogis et al (CEREDIH group). J Allergy Clin Immunol (2016), Physical health conditions and quality of life in adults with primary immune deficiency diagnosed during childhood: a nationwide study

Renke J et al., Cent Eur J Immunol. (2016), Transient hypogammaglobulinaemia of infants in children with mastocytosis – strengthened indications for vaccinations. (PMID 27833446)

Schatorjé EJ et al. Orphanet J Rare Dis. (2016) Primary immunodeficiency associated with chromosomal aberration – an ESID survey. ( PMID: 27484815)

Schatorjé EJ et al. J Clin Immunol. (2016) The Challenge of Immunoglobulin-G Subclass Deficiency and Specific Polysaccharide Antibody Deficiency – a Dutch Pediatric Cohort Study. (PMID: 26846287)

Jandus P et al. Rev Med Suisse (2016) [Understanding primary immunodeficiencies: usefulness of a register].[Article in French] (PMID: 27197327)

Pac M, Bernatowska E. Eur J Pediatr. (2016) [Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland]. (PMID: 27357411)

2015

Milota T et al. Int Arch Allergy Immunol. (2015) Negativity for Specific Autoantibodies in Patients with Type 1 Diabetes That Developed on a Background of Common Variable Immunodeficiency. (PMID: 26796963)

Brignier AC et al. JACI (2015) Early-onset hypogammaglobulinemia: A survey of 44 patients. (PMID: 25959671)

Marschall K et al. Clin Exp Immunol. (2015) The Swiss National Registry for Primary Immunodeficiencies: Report on the first 6 years’ activity 2008-2014. (PMID: 26031847)

Jonkman-Berk BM et al. Clin Immunol. (2015) Primary immunodeficiencies in the Netherlands: National patient data demonstrate the increased risk of malignancy. (PMID: 25451158)

Turley AJ et al. J Clin Immunol.(2015) Spectrum and Management of Complement Immunodeficiencies (Excluding Hereditary Angioedema) Across Europe. (PMID: 25663093)

Aydin SE et al. J Clin Immunol. (2015) DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options – a Review of 136 Patients. (PMID: 25627830)

Salvator H et al. Eur Respir J. (2015) Pulmonary manifestations in adult patients with chronic granulomatous disease. (PMID: 25614174)

Suarez F et al. J Clin Oncol. (2015) Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. (PMID: 25488969)

2012

An article focussing on data from Germany (includes editorial notes). (PMID: 18813884 )