Publications of the consortium

Hematopoietic Stem Cell Transplantation Resolves the Immune Deficit Associated with STAT3-Dominant-Negative Hyper-IgE Syndrome

Harrison SC, Tsilifis C, Slatter MA, Nademi Z, Worth A, Veys P, Ponsford MJ, Jolles S, Al-Herz W, Flood T, Cant AJ, Doffinger R, Barcenas-Morales G, Carpenter B, Hough R, Haraldsson Á, Heimall J, , Abinun M, Gennery AR

J Clin Immunol. 2021 Feb 1. doi: 10.1007/s10875-021-00971-2.

Impact Factor: 6,780 (2019)

Dynamics in protein translation sustaining T cell preparedness

Wolf T, Jin W, Zoppi G, Vogel IA, Akhmedov M, Bleck CKE, Beltraminelli T, Rieckmann JC, Ramirez NJ, Benevento M, Notarbartolo S, Bumann D, Meissner F, Grimbacher B, Mann M, Lanzavecchia A, Sallusto F, Kwee I, Geiger R.

Nat Immunol. 2020 Aug;21(8):927-937. doi: 10.1038/s41590-020-0714-5.

Impact Factor: 20,479 (2019)

Altered Microbiota, Impaired Quality of Life, Malabsorption, Infection, and Inflammation in CVID Patients With Diarrhoea

van Schewick CM, Nöltner C, Abel S, Burns SO, Workman S, Symes A, Guzman D, Proietti M, Bulashevska A, Moreira F, Soetedjo V, Lowe DM, Grimbacher B.

Front Immunol. 2020 Jul 31;11:1654. doi: 10.3389/fimmu.2020.01654.

Impact Factor: 5,085 (2019)

 

Bile acids regulate intestinal antigen presentation and reduce graft-versus-host disease without impairing the graft-versus-leukemia effect

Haring E, Uhl FM, Andrieux G, Proietti M, Bulashevska A, Sauer B, Braun LM, de Vega Gomez E, Esser PR, Martin SF, Pfeifer D, Follo M, Schmitt-Graeff A, Buescher J, Duyster J, Grimbacher B, Boerries M, Pearce EL, Zeiser R, Apostolova P.

Haematologica. 2020 Jul 16; haematol.2019.242990. doi: 10.3324/haematol.2019.242990.

Impact Factor: 7,116 (2019)

Glucagon Like peptide-2 for Instestinal Stem Cell and Paneth Cell Reparair During Graft-Versus-Hist Disease in Mice and Humans

Norona J, Apostolova P, Schmidt D, Ihlemann R, Reischmann N, Taylor G, Köhler N, Heer J, Heeg S, Andrieux G, Siranosian BA, Schmitt-Graeff A, Pfeifer D, Catalano A, Frew I, Proietti M, Grimbacher B, Bulashevska A, Bhatt AS, Brummer T, Clauditz TS, Zabelina T, Kroeger N, Blazar BR, Boerries M, Ayuk F, Zeiser R.

Blood. 2020 Jun 15; blood.2020005957. doi: 10.1182/blood.2020005957.

Impact Factor: 17,543 (2019)

Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients

Meshaal S, Hawary RE, Adel R, Elaziz DA, Erfan A, Lotfy S, Hafez M, Hassan M, Johnson M, Rojas-Restrepo J, Gamez-Diaz L, Grimbacher B, Shoman W, Abdelmeguid Y, Boutros J, Galal N, El-Guindy N, Elmarsafy A.

J Clin Immunol. 2020 Jun 6 doi: 10.1007/s10875-020-00799-2

Impact Factor: 6,780 (2019)

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

Impact Factor: 11,743 (2019)

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies.

J Allergy Clin Immunol. 2020 May 1. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896. Epub 27 Dec 2019

Impact Factor: 10,228 (2019)

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR-BioResource – Rare Diseases Consortium, Warnatz K, Grimbacher B.

J Allergy Clin Immunol. 2020 Apr 9. pii: S0091-6749(20)30422-X. doi: 10.1016/j.jaci.2019.11.051.

Impact Factor: 10,228 (2019)

Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders.

van de Ven A, Mader I, Wolff D, Goldacker S, Fuhrer H, Rauer S, Grimbacher B, Warnatz K.

J Allergy Clin Immunol Pract. 2020 Mar;8(3):1047-1062.e6. doi: 10.1016/j.jaip.2019.11.039. Epub 2019 Dec 16

Impact Factor: 7,574 (2019)

Cancer Tendency in a Patient with ZNF341 Deficiency.

Cekic S, Hartberger JM, Frey-Jakobs S, Huriyet H, Hortoglu MB, Neubauer JC, Karali Y, Abakay CD, Saraydaroglu O, Cavas T, Grimbacher B, Kilic SS.

J Clin Immunol. 2020 Jan 24. doi: 10.1007/s10875-020-00756-z.

Impact Factor: 6,780 (2019)

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari ME, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, Grimbacher B, Biebl A, Schauer U, Hague R, Neth O, Mauracher A, Pachlopnik Schmid J, Fabre A, Kostyuchenko L, Führer M, Lorenz MR, Schwarz K, Rohr J, Ehl S.

Clin Immunol. 2020 Jan;210:108316. doi: 10.1016/j.clim.2019.108316. Epub 2019 Nov 23.

Impact Factor: 3,368 (2019)

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in .

Schröder C, Sogkas G, Fliegauf M, Dörk T, Liu D, Hanitsch LG, Steiner S, Scheibenbogen C, Jacobs R, Grimbacher B, Schmidt RE, Atschekzei F.

Front Immunol. 2019 Nov 14;10:2618. doi: 10.3389/fimmu.2019.02618. eCollection 2019.

Impact Factor: 5,085 (2019)

Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency

Spee-Mayer C v., Koemm V, Wehr C, Goldacker S, Kindle G, Bulashevska A, Proietti M, Grimbacher B, Ehl S, Warnatz K.

Clin Immunol. 2019 Jun; 203:59-62. doi: 10.1016

Impact Factor: 3,368 (2019)

Català-Moll, F., Ferreté-Bonastre, A.G., Godoy-Tena, G., Morante-Palacios, O., Ciudad, L., Barberà, L., Fondelli, F., Martínez-Cáceres, E.M., Rodríguez-Ubreva, J., Li, T., and Ballestar, E. (2022) Vitamin D receptor, STAT3 and TET2 cooperate to establish tolerogenesis. Cell Reports 38, 110244.

 

Ferreté-Bonastre, A.G., Cortés-Hernández, J., Ballestar, E. (2021) What can we learn from DNA methylation studies in lupus? Clinical Immunology 234, 108920.

 

Ricardo Martins-Ferreira, R., Leal, B., Chaves, J., Li, T., Ciudad, L., Rangel, R., Santos, A., Martins da Silva, A., Pinho Costa, P. and Ballestar, E. (2022) Epilepsy progression is associated with cumulative DNA methylation changes in inflammatory genes. Progress in Neurobiology 209, 102207

 

Morante-Palacios, O., Ciudad, L., Micheroli, R., de la Calle-Fabregat, C., Li, T., Barbisan, G., Houtman, M., Edalat, S.G., Frank-Bertoncelj, M., Ospelt, C., and Ballestar, E. (2022) Coordinated glucocorticoid receptor and MAFB action induces tolerogenesis and epigenome remodelling in dendritic cells. Nucleic Acids Research 50, 108-126.

 

Morante-Palacios, O., Lorente-Sorolla, C., Ciudad, L., Calafell-Segura, J., Garcia-Gomez, A., Català-Moll, F., Ruiz-Sanmartín, A., Martínez-Gallo, M., Ferrer, R., Ruiz-Rodriguez, J.C., Álvarez-Errico, D., and Ballestar, E. (2021) JAK2-STAT epigenetically regulates tolerized genes in monocytes in the first encounter with gram-negative bacterial endotoxins in sepsis. Frontiers in Immunology 12, 734652.

 

de la Calle-Fabregat, C., Niemantsverdriet, E., Cañete, J.D., Li, T., van der Helm-van Mil, A.H.M., Rodríguez-Ubreva, J., and Ballestar, E. (2021) The DNA methylation Profile of Undifferentiated Arthritis Patients Anticipates their Subsequent Differentiation to Rheumatoid Arthritis. Arthritis & Rheumatology 73, 2229-2239.

 

Català-Moll, F., Ferreté-Bonastre, A.G., Li, T., Weichenhan, D., Lutsik, P., Ciudad, L., Álvarez-Prado, Á., Rodríguez-Ubreva, J., Klemann, C., Speckmann, C., Vilas-Zornoza, A., Abolhassani, H., Martínez-Gallo, M., Dieli-Crimi, R., Rivière, J., Martín-Nalda, A., Colobran, R., Soler-Palacín, P., Kracker, S., Hammarström, L., Prosper, F., Durandy, A., Grimbacher, B., Plass, C., and Ballestar, E. (2021) Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction. Nucleic Acids Research 49, 5057–5073.

 

Garcia-Gomez, A., Li, T., de la Calle-Fabregat, C., Rodríguez-Ubreva, J., Ciudad, L., Català-Moll, F., Godoy-Tena, G., Martín-Sánchez, M., San-Segundo, L., Muntión, S., Morales, X., Ortiz de Solórzano, C., Oyarzabal, J., San-José Enériz, E., Esteller, M., Agirre, X., Prosper, F., Garayoa, M. and Ballestar, E. (2021) Targeting aberrant DNA methylation in mesenchymal stromal cells as a treatment for myeloma bone disease. Nature Communications 12, 421.

 

Morante-Palacios O, Ballestar E. (2021) shinyÉPICo: A graphical pipeline to analyze Illumina DNA methylation arrays. Bioinformatics 37, 257–259.

 

Martins-Ferreira R, Leal B, Costa PP, Ballestar E. (2021) Microglial innate memory and epigenetic reprogramming in neurological disorders. Progress in Neurobiology 200, 101971.

 

Morante-Palacios, O., Fondelli, F., Ballestar, E.* and Martínez-Cáceres, E.M.* (2021) Tolerogenic dendritic cells in Autoimmunity and Inflammatory Diseases. Trends in Immunology 42, 59-75. *co-corresponding

 

Li, T., Ortiz, L., Andrés-León, E., Ciudad, L., Javierre, B.M., López-Isac, E., Guillén-Del-Castillo. A., Simeón-Aznar, C.P., Ballestar, E.*, Martín, J.* (2020) Epigenomics and Transcriptomics of Systemic Sclerosis CD4+ T cells reveal Long Range Dysregulation of Key Inflammatory Pathways mediated by disease-associated Susceptibility Loci. Genome Medicine 12, 81. *co-corresponding

 

Ballestar, E., Sawalha, A.H. and Lu, Q. (2020) Clinical value of DNA methylation markers in autoimmune rheumatic diseases. Nature Reviews Rheumatology 16,514-524.

 

Li, T., Garcia-Gomez, A., Morante-Palacios, O., Ciudad, L., Özkaramehmet, S., Van Dijck, E., Rodríguez-Ubreva, J., Vaquero, A. and Ballestar, E. (2020) SIRT1/2 orchestrate acquisition of DNA methylation and loss of histone H3 activating marks to prevent premature activation of inflammatory genes in macrophages. Nucleic Acids Research 48, 665–681.

 

Lu, Q., Wu, R., Zhao, M., Garcia-Gomez, A., and Ballestar, E. (2019) MicroRNAs as therapeutic targets in inflammatory disease. Trends in Pharmacological Sciences 40, 853-865.

 

Lorente-Sorolla, C., Garcia-Gomez, A., Català-Moll, F., Toledano, V., Ciudad, L., Avendaño-Ortiz, J., Maroun-Eid, C., Martín-Quirós, A. Martínez-Gallo, M., Ruiz-Sanmartín, A., García del Campo, A., Ferrer-Roca, R., Ruiz-Rodriguez, J.C. Álvarez-Errico, D., López-Collazo, E. and Ballestar, E. (2019) Inflammatory cytokines and organ dysfunction associate with the aberrant DNA methylome of monocytes in sepsis. Genome Medicine 11, 66.

 

Rodríguez-Ubreva, J., de la Calle-Fabregat, C., Li, T., Ciudad, L., Ballestar, M.L., Català-Moll, F., Morante-Palacios, O., Garcia-Gomez, A., Celis, R., Humby, F., Nerviani, A., Martin, J., Pitzalis, C., Cañete, J.D., and Ballestar, E. (2019) Inflammatory cytokines shape a changing DNA methylome in monocytes mirroring disease activity in rheumatoid arthritis. Annals of the Rheumatic Diseases 78,1505-1516.

 

Del Pino-Molina, L., Rodríguez-Ubreva, J., Torres Canizales, J., Coronel-Díaz, M., Kulis, M., Martín-Subero, J.I., van der Burg, M., Ballestar, E.*, and López-Granados, E*. (2019) Impaired CpG Demethylation in Common Variable Immunodeficiency Associates with B Cell Phenotype and Proliferation Rate. Frontiers in Immunology 10, 878. *co-corresponding

 

 

Rodríguez-Cortez, V.C., del Pino-Molina, L., Rodríguez-Ubreva, J., Ciudad, L., Gómez-Cabrero, D., Company, C.,  Urquiza, J.M., Tegnér, J., Rodríguez-Gallego, C., López-Granados, E., and Ballestar, E. (2015) Monozygotic Twins Discordant for Common Variable Immunodeficiency Reveal Impaired DNA Demethylation during Naïve-to-Memory B-Cell Transition. Nature Communications 6, 7335.