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Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. OTULIN-related conditions: Report of a new case and review of the literature using GenIA. Clin Immunol. 2024 Aug;265:110292. doi:10.1016/j.clim.2024.110292. Epub 2024 Jun 22. PMID: 38914362.
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Marchal A, Cirulli ET, Neveux I, Bellos E, Thwaites RS, Schiabor Barrett KM, Zhang Y, Nemes-Bokun I, Kalinova M, Catchpole A, Tangye SG, Spaan AN, Lack JB, Ghosn J, Burdet C, Gorochov G, Tubach F, Hausfater P; COVID Human Genetic Effort; COVIDeF Study Group; French COVID Cohort Study Group; CoV-Contact Cohort; COVID-STORM Clinicians; COVID Clinicians; Orchestra Working Group; Amsterdam UMC COVID-19 Biobank; NIAID-USUHS COVID Study Group; Dalgard CL, Zhang SY, Zhang Q, Chiu C, Fellay J, Grzymski JJ, Sancho-Shimizu V, Abel L, Casanova JL, Cobat A, Bolze A. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection. HGG Adv. 2024 Jul 18;5(3):100300. doi:10.1016/j.xhgg.2024.100300. Epub 2024 Apr 26. PMID: 38678364; PMCID: PMC11215417.
Ramirez NJ, Schulze JJ, Walter S, Werner J, Mrovecova P, Olek S, Sachsenmaier C, Grimbacher B, Salzer U. Epigenetic immune cell quantification for diagnostic evaluation and monitoring of patients with inborn errors of immunity and secondary immune deficiencies. Clin Immunol. 2024 Mar;260:109920. doi:10.1016/j.clim.2024.109920. Epub 2024 Feb 1. PMID: 38307474.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME,Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi:10.1016/S2352-3026(23)00362-9. Erratum in: Lancet Haematol. 2024 Apr;11(4):e248. doi: 10.1016/S2352-3026(24)00062-0. PMID: 38302222.
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.
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M. GenIA, the Genetic Immunology Advisor database for inborn errors of immunity. J Allergy Clin Immunol. 2024 Mar;153(3):831-843. doi:10.1016/j.jaci.2023.11.022. Epub 2023 Nov 30.
PMID: 38040041.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, Goldacker S, Schulte B, Biskup S, Chatelain P, Schuster V, Warnatz K, Grimbacher B, Meinhardt A, Holzinger D, Oommen PT, Hinze T, Hebart H, Seeger K, Lehmberg K, Leahy TR, Claviez A, Vieth S, Schilling FH, Fuchs I, Groß M, Rieux-Laucat F, Magerus A, Speckmann C, Schwarz K, Ehl S; ALPS Study Group. Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing. J Allergy Clin Immunol. 2024 Jan;153(1):297-308.e12. doi: 10.1016/j.jaci.2023.11.006. Epub 2023 Nov 17.
PMID: 37979702.
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Telomere biology disorders may manifest as common variable immunodeficiency (CVID). Clin Immunol. 2023 Dec;257:109837.
doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8.
PMID: 37944684.
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Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, Neveux N, Landman-Parker J, Picard C, Fouyssac F, Neven B, Grimbacher B, Speckmann C, Fischer A, Latour S, Schwarz K, Ehl S, Rieux-Laucat F, Rensing-Ehl A, Magérus A. Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
J Allergy Clin Immunol. 2024 Jan;153(1):203-215. doi:10.1016/j.jaci.2023.09.028. Epub 2023 Oct 2. PMID: 37793571.
Urban B, Batlle-Masó L, Perurena-Prieto J, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Martinez-Gallo M, Moushib L, Antolín M, Rivière JG, Soler-Palacin P, Dieli-Crimi R, Franco-Jarava C, Colobran R. Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency. J Clin Immunol. 2024 Nov 23;45(1):47. doi: 10.1007/s10875-024-01833-3. PMID: 39579173.
Batlle-Masó L, Antolin M, Marques-Soares J, Dieli-Crimi R, Colobran R. OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers. J Clin Immunol. 2024 Apr 5;44(4):95. doi: 10.1007/s10875-024-01700-1. PMID: 38578307.
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Batlle-Masó L, Rivière JG, Franco-Jarava C, Martín-Nalda A, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Castells N, Martinez-Gallo M, Soler-Palacín P, Colobran R. Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism. J Clin Immunol. 2023 Nov;43(8):1953-1963. doi: 10.1007/s10875-023-01556-x. Epub 2023 Aug 19. PMID: 37597073.
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Support for Genetic Diagnosis for each country
Content to follow soon.
Please, find here a list to countries which seem to be well served with regard to the provision of a genetic diagnosis:
ESID country | Genetic testing available to all patients of this country with a suspicion of IEI, free of charge for the patient |
Albania | unknown, please contact [email protected] if you have this information |
Andorra | unknown, please contact [email protected] if you have this information |
Austria | unknown, ESID contact person: Kaan Boztug |
Belarus | unknown, please contact [email protected] if you have this information |
Belgium | yes, ESID contact person: Isabelle Meyts at <[email protected]> |
Bosnia | unknown, please contact [email protected] if you have this information |
Bulgaria | unknown, please contact [email protected] if you have this information |
Croatia | unknown, please contact [email protected] if you have this information |
Czech Republic | yes, via geneticist, ESID contact person: [email protected] |
Denmark | yes, ESID contact person: Trine Mogensen at <[email protected]> |
Estonia | yes, please contact: Kairit Joost at <[email protected]> or Krista Ress at <[email protected]> |
Finland | yes, ESID contact person: Mikko Seppänen <[email protected]> |
France | yes, ESID contact person:Guilaine Boursier, Anne Puel at <[email protected]>, or Capucine Picard <[email protected]> |
Germany | yes, ESID contact person: Klaus Schwarz |
Greece | no, contact person: Matthaios Speletas |
Hungary | unknown, please contact [email protected] if you have this information |
Iceland | unknown, please contact [email protected] if you have this information |
Ireland | unknown, please contact [email protected] if you have this information |
Israel | unknown, please contact [email protected] if you have this information |
Italy | yes, ESID contact persons: Vassilios Lougaris at <[email protected]> and Raffaele Badolato at <[email protected]> |
Latvia | unknown, please contact [email protected] if you have this information |
Lichtenstein | unknown, please contact [email protected] if you have this information |
Lithuania | unknown, please contact [email protected] if you have this information |
Luxembourg | unknown, please contact [email protected] if you have this information |
Macedonia | unknown, please contact [email protected] if you have this information |
Malta | unknown, please contact [email protected] if you have this information |
Moldavia | unknown, please contact [email protected] if you have this information |
Monaco | unknown, please contact [email protected] if you have this information |
Montenegro | unknown, please contact [email protected] if you have this information |
Netherlands | yes, ESID contact persons: Mirjam van der Burg and Marielle van Gijn |
Norway | yes, ESID contact person: Asbjørg Stray-Pedersen <[email protected]> |
Poland | unknown, please contact [email protected] if you have this information |
Portugal | yes, ESID contact person: Joao Pedro Marques Farela Neves <[email protected]> |
Republic of Cyprus | unknown, please contact [email protected] if you have this information |
Romania | yes, please contact Adela Chirita-Emandi at <[email protected]> for further information |
Russia | unknown, please contact [email protected] if you have this information |
Serbia | unknown, please contact [email protected] if you have this information |
Slovakia | unknown, please contact [email protected] if you have this information |
Slovenia | unknown, please contact [email protected] if you have this information |
Spain | yes, ESID contact person: Roger Colobran at [email protected] |
Sweden | yes, please contact Lennart Hammarström <[email protected]> |
Switzerland | yes, ESID contact person: Mike Recher at <[email protected]> |
Turkey | unknown, please contact [email protected] if you have this information |
Ukraine | unknown, please contact [email protected] if you have this information |
United Kingdom | yes, ESID contact persons: Sophie Hambleton at <[email protected]> or Kimberly Gilmour <[email protected]> |
Representatives of the following countries stated that in general a provision of a genetic diagnosis is not a critical problem in their country: Finland, Italy, Switzerland, France, Germany, Spain, UK, Norway, The Netherlands.
In Greece, however, there seem to be funding issues.
Please write to [email protected] to learn more about how to contribute to the collaborative alliance against VUS’es.
Report from the first meeting of the ESID genetics working party:
Issues which were raised at the first meeting of the ESID genetics working party:
- Interaction with the ESID Registry working party as we wish to document our genetic findings into the ESID registry, but currently there are e.g. genes missing etc…
- Write a guidance document of best practice for molecular/genetic diagnosis in IEI and generate evidence for the justification of doing so
- How to link the autoinflammatory world with the PID world etc.
- Topic of data sharing
- Topic of education and information exchange (webinars vs. in-person meetings)