Publikationen

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: 23,530

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: 6,429

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

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Wang H, Humbatova A, Liu Y, Qin W, Lee M, Cesarato N, Kortüm F, Kumar S, Romano MT, Dai S, Mo R, Sivalingam S, Motameny S, Wu Y, Wang X, Niu X, Geng S, Bornholdt D, Kroisel PM, Tadini G, Walter SD, Hauck F, Girisha KM, Calza AM, Bottani A, Altmüller J, Buness A, Yang S, Sun X, Ma L, Kutsche K, Grzeschik KH, Betz RC, Lin Z.
Am J Hum Genet. 2020 Jul 2;107(1):34-45. doi: 10.1016/j.ajhg.2020.05.006. Epub 2020 Jun 3.
Impact Factor: 9,890

A novel complete autosomal recessive STAT1 LOF variant causes immunodeficiency with hemophagocytic lymphohistiocytosis-like hyperinflammation

Boehmer D, Koehler L, Magg T, Metzger P, Rohlfs M, Ahlfeld J, Rack-Hoch A, Reiter K , Albert M, Endres S, Rothenfusser S, Klein C, Koenig L, Hauck F.
J Allergy Clin Immunol Pract. 2020 Jun 27;S2213-2198(20)30669-3. doi: 10.1016/j.jaip.2020.06.034.
Impact Factor: 7,574

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: 10,660

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: 14,110

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: 10,892

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: 14,110

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: 14,110

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: 7,550

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: 14,110

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: 3,711

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1

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: 4,716

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: 4,857

Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency

Hauck F, Gennery A, Seidel M.
Front Immunol. 2019; 10: 1781. doi: 10.3389/fimmu.2019.01781
Impact Factor: 6,429