Publikationen

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y,Wang X, Shuchao Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr W, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Ronald M. Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Ying Huang Y, Li D, Holm H. Uhlig H, Muise AM
Nat Genet. 2021 Apr. doi: 10.1038/s41588-021-00803-4.
Impact Factor: 27,605 (2019)

Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity

Sogkas G, Atschekzei F, Adriawan IG, Dubrowinskaja N, Witte T, Schmidt RE
Cell Mol Immunol. 2021 Apr 1. doi: 10.1038/s41423-020-00626-z.
Impact Factor: 8,484 (2019)

What can clinical immunology learn from inborn errors of epigenetic regulators?

Camacho-Ordonez N, Ballestar E, Timmers HTM, Grimbacher B.
J Allergy Clin Immunol. 2021 Feb 17. doi: 10.1016/j.jaci.2021.01.035.
Impact Factor: 10,228 (2019)

Immunogenicity and safety of anti-SARS-CoV-2 mRNA vaccines in patients with chronic inflammatory conditions and immunosuppressive therapy in a monocentric cohort

Geisen UM, Berner DK, Tran F, Sümbül M, Vullriede L, Ciripoi M, Reid HM, Schaffarzyk A, Longardt AC, Franzenburg J, Hoff P, Schirmer JH, Zeuner R, Friedrichs A, Steinbach A, Knies C, Markewitz RD, Morrison PJ, Gerdes S, Schreiber S, Hoyer BF.
Ann Rheum Dis. 2021 Mar 24. doi: 10.1136/annrheumdis-2021-220272.
Impact Factor: 16,102 (2019)

Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency

Eichinger A, von Bernuth H, Dedieu C, Schroeder SA, Marca G, Albert MH, Hauck F.
J Clin Immunol 2021 Feb 27. doi: 10.1007/s10875-021-01003-9.
Impact Factor: 6,780 (2019)

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, Grimbacher B, Abinun M, Gennery AR
J Clin Immunol. 2021 Feb 1. doi: 10.1007/s10875-021-00971-2.
Impact Factor: 6,780 (2019)

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Ghosh S, Kostel Bal S, Edwards ESJ, Pillay B, Jimenez Heredia R, Erol Cipe F, Rao G, Salzer E, Zoghi S, Abolhassani H, Momen T, Gostick E, Price DA, Zhang Y, Oler AJ, Gonzaga-Jauregui C, Erman B, Metin A, Ilhan I, Haskologlu S, Islamoglu C, Baskin K, Ceylaner S, Yilmaz E, Unal E, Karakukcu M, Berghuis D, Cole T, Gupta AK, Hauck F, Kogler H, Hoepelman AIM, Baris S, Karakoc-Aydiner E, Ozen A, Kager L, Holzinger D, Paulussen M, Kruger R, Meisel R, Oommen PT, Morris E, Neven B, Worth A, van Montfrans J, Fraaij PLA, Choo S, Dogu F, Davies EG, Burns S, Duckers G, Becker RP, von Bernuth H, Latour S, Faraci M, Gattorno M, Su HC, Pan-Hammarstrom Q, Hammarstrom L, Lenardo MJ, Ma CS, Niehues T, Aghamohammadi A, Rezaei N, Ikinciogullari A, Tangye SG, Lankester AC, Boztug K.
Blood. 2020 Dec 3;136(23):2638-2655. doi: 10.1182/blood.2020006738.
Impact Factor: 17,543 (2019)

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstron M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Leahy R, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F
Nat Commun. 2020 Oct 21. doi: 10.1038/s41467-020-18925-4
Impact Factor: 11,8 (2019)

High frequency of variants in genes associated with primary immunodeficiencies in patients with rheumatic diseases with secondary hypogammaglobulinaemia

Sogkas G, Dubrowinskaja N, Adriawan IR, Anim M, Witte T, Schmidt RE, Atschekzei F.
Ann Rheum Dis. 2020 Oct 12:annrheumdis-2020-218280. doi: 10.1136/annrheumdis-2020-218280.
Impact Factor: 16,102 (2019)

Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T Cell Deficiencies

Hoenig M, Roesler J, Seidel MG, Albert MH, Hauck F, Maecker-Kolhoff B, Eiz-Vesper B, Kleinschmidt K, Debatin KM, Jacobsen EM, Furlan I, Suttorp M, Schuetz C, Schulz AS
Biol Blood Marrow Transplant 2020 Oct 3; doi: 10.1016/j.bbmt.2020.09.037.
Impact Factor: 3,853 (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)

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: 10,502 (2019)

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: 10,228 (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: 7,547 (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 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: 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)

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: 5,085 (2019)