Publikationen
Förderkennzeichen: 01GM2206A Freiburg, 01GM2206B Hannover, 01GM2206C Dresden, 01GM2206D München
Activation of gp130 signaling in T cells drives TH17-mediated multi-organ autoimmunity
Baumgartner F, Bamopoulos SA, Faletti L, Hsiao HJ, Holz M, Gonzalez-Menendez I, Solé-Boldo L, Horne A, Gosavi S, Özerdem C, Singh N, Liebig S, Ramamoorthy S, Lehmann M, Demel U, Kühl AA, Wartewig T, Ruland J, Wunderlich FT, Schick M, Walther W, Rose-John S, Haas S, Quintanilla-Martinez L, Feske S, Ehl S, Glauben R, Keller U.
Sci Signal. 2024 Feb 20. doi: 10.1126/scisignal.adc9662.
Impact Factor: 7,3 (2022)
Disrupted degradative sorting of TLR7 is associated with human lupus
Mishra H, Schlack-Leigers C, Lim EL, Thieck O, Magg T, Raedler J, Wolf C, Klein C, Ewers H, Lee-Kirsch MA, Meierhofer D, Hauck F, Majer O.
Sci Immunol. 2024 Jan 11. doi: 10.1126/sciimmunol.adi9575.
Impact Factor: 24,8 (2022)
UNC93B1 variants underlie TLR7-dependent autoimmunity
Wolf C, Lim EL, Mokhtari M, Kind B, Odainic A, Lara-Villacanas E, Koss S, Mages S, Menzel K, Engel K, Dückers G, Bernbeck B, Schneider DT, Siepermann K, Niehues T, Goetzke CC, Durek P, Minden K, Dörner T, Stittrich A, Szelinski F, Guerra GM, Massoud M, Bieringer M, de Oliveira Mann CC, Beltrán E, Kallinich T, Mashreghi MF, Schmidt SV, Latz E, Klughammer J, Majer O, Lee-Kirsch MA.
Sci Immunol. 2024 Jan 11. doi: 10.1126/sciimmunol.adi9769.
Impact Factor: 24,8 (2022)
Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders
Magerus A, Rensing-Ehl A, Rao VK, Teachey DT, Rieux-Laucat F, Ehl S.
J Allergy Clin Immunol. 2024 Jan. doi: 10.1016/j.jaci.2023.11.004.
Impact Factor: 14,2 (2022)
PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
Baysac K, Sun G, Nakano H, Schmitz EG, Cruz AC, Fisher C, Bailey AC.
J Allergy Clin Immunol. 2024 Jan. doi: 10.1016/j.jaci.2023.08.036.
Impact Factor: 14,2 (2022)
Hypogammaglobulinemia and immune dysregulation-not just 2 sides of a coin
Uzel G, Keller B, Warnatz K.
J Allergy Clin Immunol. 2024 Jan. doi: 10.1016/j.jaci.2023.11.005.
Impact Factor: 14,2 (2022)
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
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.
J Allergy Clin Immunol. 2024 Jan. doi: 10.1016/j.jaci.2023.10.018.
Impact Factor: 14,2 (2022)
Research on Rare Diseases in Germany – The GAIN Registry: a registry for individuals with congenital multi-organ autoimmune diseases
Stapornwongkul C, Nieters A, Staus P, Rusch S, Delor A, Baumann U, Wehrle J, Boerries M, Seidel MG, Grimbacher B, Kindle G.
J Health Monit. 2023 Dec 13. doi: 10.25646/11732.
Impact Factor: N/A
Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation in PEPD
Atschekzei F, Fedchenko M, Elsayed A, Dubrowinskaja N, Graalmann T, Ringshausen FC, Witte T, Sogkas G.
RMD Open. 2023 Dec 7. doi: 10.1136/rmdopen-2023-003507.
Impact Factor: 6,2 (2022)
GenIA, the Genetic Immunology Advisor database for Inborn Errors of Immunity
Caballero-Oteyza A, Crisponi L, Peng XP, Yauy K, Volpi S, Giardino S, Freeman AF, Grimbacher B, Proietti M.
J Allergy Clin Immunol. 2023 Nov 29. doi: 10.1016/j.jaci.2023.11.022.
Impact Factor: 14,2 (2022)
Telomere biology disorders may manifest as common variable immunodeficiency (CVID)
PRolles 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.
Clin Immunol. 2023 Nov 8. doi: 10.1016/j.clim.2023.109837.
Impact Factor: 8,6 (2022)
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Belot A, Kuehn HS, Rosenzweig SD, Miyara M, Licciardi F, Servettaz A, Barlogis V, Le Guenno G, Herrmann VM, Kuijpers T, Ducoux G, Sarrot-Reynauld F, Schuetz C, Cunningham-Rundles C, Rieux-Laucat F, Tangye SG, Sobacchi C, Doffinger R, Warnatz K, Grimbacher B, Fieschi C, Berteloot L, Bryant VL, Trouillet Assant S, Su H, Neven B, Abel L, Zhang Q, Boisson B, Cobat A, Jouanguy E, Kampe O, Bastard P, Roifman CM, Landegren N, Notarangelo LD, Anderson MS, Casanova JL, Puel A.
Nature. 2023 Nov. doi: 10.1038/s41586-023-06717-x.
Impact Factor: 64,8 (2022)
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
Peng XP, Al-Ddafari MS, Caballero-Oteyza A, El Mezouar C, Mrovecova P, Dib SE, Massen Z, Smahi MC, Faiza A, Hassaïne RT, Lefranc G, Aribi M, Grimbacher B.
Clin Immunol. 2023 Nov. doi: 10.1016/j.clim.2023.109758.
Impact Factor: 8,6 (2022)
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, Kanegane H, Koletzko S, Kotlarz D, Klein C, Lenardo MJ, Lo B, McGovern DPB, Özen A, de Ridder L, Ruemmele F, Shouval DS, Snapper SB, Travis SP, Turner D, Wilson DC, Muise AM.
Nat Rev Gastroenterol Hepatol. 2023 Oct 3. doi: 10.1038/s41575-023-00838-4.
Impact Factor: 65,1 (2022)
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
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, Shcherbina A, Slatter MA, Sogkas G, Soler-Palacin P, Speckmann C, Stephan JL, Suarez F, Tommasini A, Trück J, Uhlmann A, van Aerde KJ, van Montfrans J, von Bernuth H, Warnatz K, Williams T, Worth AJJ, Ip W, Picard C, Catherinot E, Nademi Z, Grimbacher B, Forbes Satter LR, Kracker S, Chandra A, Condliffe AM, Ehl S.
J Allergy Clin Immunol. 2023 Oct. doi: 10.1016/j.jaci.2023.06.015.
Impact Factor: 14,2 (2022)
Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry
Rojas-Restrepo J, Sindram E, Zenke S, Haberstroh H, Mitsuiki N, Gabrysch A, Huebscher K, Posadas-Cantera S, Krausz M, Kobbe R, Rohr JC, Grimbacher B, Gámez-Díaz L.
J Clin Immunol. 2023 Sep 23. doi: 10.1007/s10875-023-01582-9.
Impact Factor: 9,1 (2022)
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C.
Clin Immunol. 2023 Sep 22. doi: 10.1016/j.clim.2023.109777.
Impact Factor: 8,6 (2022)
Case Report: Response of cutaneous lupus lesions in SLE to interferon receptor blockade parallels reduction of interferon score in blood
Guenther C, Wolf C, Fennen L, Roesing S, Beissert S, Aringer M, Lee-Kirsch MA.
Front. Immunol. 2023 Sep 21. doi: 10.3389/fimmu.2023.1253279.
Impact Factor: 7,3 (2022)
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9
Wolf C, Fischer H, Kühl JS, Koss S, Jamra RA, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, Huber R, Hornung V, Lee-Kirsch MA.
J Allergy Clin Immunol. 2023 Aug 5. doi: 10.1016/j.jaci.2023.07.013.
Impact Factor: 14,2 (2022)
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency
Jauch AJ, Bignucolo O, Seki S, Ghraichy M, Delmonte OM, von Niederhäusern V, Higgins R, Ghosh A, Nishizawa M, Tanaka M, Baldrich A, Köppen J, Hirsiger JR, Hupfer R, Ehl S, Rensing-Ehl A, Hopfer H, Prince SS, Daley SR, Marquardsen FA, Meyer BJ, Tamm M, Daikeler TD, Diesch T, Kühne T, Helbling A, Berkemeier C, Heijnen I, Navarini AA, Trück J, de Villartay JP, Oxenius A, Berger CT, Hess C, Notarangelo LD, Yamamoto H, Recher M.
J Allergy Clin Immunol. 2023 Aug. doi: 10.1016/j.jaci.2023.03.022.
Impact Factor: 14,2 (2022)
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing
Alizadeh Z, Fazlollahi MR, Mazinani M, Badalzadeh M, Heydarlou H, Carapito R, Molitor A, de Oteyza ACG, Proietti M, Bavani MS, Shariat M, Fallahpour M, Movahedi M, Moradi L, Grimbacher B, Bahram S, Pourpak Z.
Genes Immun. 2023 Aug. doi: 10.1038/s41435-023-00215-w.
Impact Factor: 5,0 (2022)
Sequencing the B Cell Receptor Repertoires of Antibody-Deficient Individuals With and Without Infection Susceptibility
Lim YW, Ramirez NJ, Asensio MA, Chiang Y, Müller G, Mrovecova P, Mitsuiki N, Krausz M, Camacho-Ordonez N, Warnatz K, Adler AS, Grimbacher B.
J Clin Immunol. 2023 Jul. doi: 10.1007/s10875-023-01448-0.
Impact Factor: 9,1 (2022)
Age-associated B cells predict impaired humoral immunity after COVID-19 vaccination in patients receiving immune checkpoint blockade
Yam-Puc JC, Hosseini Z, Horner EC, Gerber PP, Beristain-Covarrubias N, Hughes R, Lulla A, Rust M, Boston R, Ali M, Fischer K, Simmons-Rosello E, O’Reilly M, Robson H, Booth LH, Kahanawita L, Correa-Noguera A, Favara D, Ceron-Gutierrez L, Keller B, Craxton A, Anderson GSF, Sun XM, Elmer A, Saunders C, Bermperi A, Jose S, Kingston N, Mulroney TE, Piñon LPG; CITIID-NIHR COVID−19 BioResource Collaboration; Chapman MA, Grigoriadou S, MacFarlane M, Willis AE, Patil KR, Spencer S, Staples E, Warnatz K, Buckland MS, Hollfelder F, Hyvönen M, Döffinger R, Parkinson C, Lear S, Matheson NJ, Thaventhiran JED.
Nat Commun. 2023 Jun 27. doi: 10.1038/s41467-023-38810-0.
Impact Factor: 16,6 (2022)
Management of a patient with common variable immunodeficiency and hepatopathy
Grümme L, Schulze-Koops H.
Allergy Asthma Clin Immunol. 2023 Jun 5. doi: 10.1186/s13223-023-00799-y.
Impact Factor: 2,7 (2022)
JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequencesa
Ott N, Faletti L, Heeg M, Andreani V, Grimbacher B.
J Clin Immunol. 2023 May 4. doi: 10.1007/s10875-023-01483-x.
Impact Factor: 9,1 (2022)
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK.
JAMA Netw Open. 2023 Mai 1. doi: 10.1001/jamanetworkopen.2023.15894.
Impact Factor: 13,8 (2022)
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia
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.
J Exp Med. 2023 May 1. doi: 10.1084/jem.20220170.
Impact Factor: 15,3 (2022)
The GAIN Registry – a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
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.
J Clin Immunol. 2023 Apr 21. doi: 10.1007/s10875-023-01472-0.
Impact Factor: 9,1 (2022)
T-bet high CD21 low B cells: the need to unify our understanding of a distinct B cell population in health and disease
Keller B, Warnatz K.
Curr Opin Immunol. 2023 Mar 15. doi: 10.1016/j.coi.2023.102300.
Impact Factor: 7,0 (2022)
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)
Speckmann C, Nennstiel U, Hönig M, Albert MH, Ghosh S, Schuetz C, Brockow I, Hörster F, Niehues T, Ehl S, Wahn V, Borte S, Lehmberg K, Baumann U, Beier R, Krüger R, Bakhtiar S, Kuehl JS, Klemann C, Kontny U, Holzer U, Meinhardt A, Morbach H, Naumann-Bartsch N, Rothoeft T, Kreins AY, Davies EG, Schneider DT, Bernuth HV, Klingebiel T, Hoffmann GF, Schulz A, Hauck F.
J Clin Immunol. 2023 Feb 27. doi: 10.1007/s10875-023-01450-6.
Impact Factor: 9,1 (2022)
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V.
J Exp Med. 2023 Feb 6. doi: 10.1084/jem.20220275.
Impact Factor: 15,3 (2022)
Common Variable Immunodeficiency: More Pathways than Roads to Rome
Peng XP, Caballero-Oteyza A, Grimbacher B.
Annu Rev Pathol. 2023 Jan 24. doi: 10.1146/annurev-pathmechdis-031521-024229.
Impact Factor: 36,2 (2022)
Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID)
Martelius T, Seppänen MRJ, Warnatz K.
Front Immunol. 2023 Jan 10. doi: 10.3389/fimmu.2022.1130418.
Impact Factor: 7,3 (2022)
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis
Ogishi M, Yang R, Rodriguez R, Golec DP, Martin E, Philippot Q, Bohlen J, Pelham SJ, Arias AA, Khan T, Ata M, Al Ali F, Rozenberg F, Kong XF, Chrabieh M, Laine C, Lei WT, Han JE, Seeleuthner Y, Kaul Z, Jouanguy E, Béziat V, Youssefian L, Vahidnezhad H, Rao VK, Neven B, Fieschi C, Mansouri D, Shahrooei M, Pekcan S, Alkan G, Emiroğlu M, Tokgöz H, Uitto J, Hauck F, Bustamante J, Abel L, Keles S, Parvaneh N, Marr N, Schwartzberg PL, Latour S, Casanova JL, Boisson-Dupuis S.
J Exp Med. 2023 Jan 2. doi: 10.1084/jem.20220484.
Impact Factor: 15,3 (2022)
COVID-19 vaccination in individuals with inflammatory rheumatic diseases
Skapenko A, Schulze-Koops H.
Nat Rev Rheumatol. 2022 Dec 14. doi: 10.1038/s41584-022-00892-3.
Impact Factor: 33,7
Inborn errors of immunity associated with defects of self-tolerance checkpoints: The CD28 family
Rush-Kittle J, Gámez-Díaz L, Grimbacher B.
Pediatr Allergy Immunol. 2022 Dec. doi: 10.1111/pai.13886.
Impact Factor: 4,4
Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
Krausz M, Mitsuiki N, Falcone V, Komp J, Posadas-Cantera S, Lorenz HM, Litzman J, Wolff D, Kanariou M, Heinkele A, Speckmann C, Häcker G, Hengel H, Gámez-Díaz L, Grimbacher B
Front Immunol. 2022 Nov 2. doi: 10.3389/fimmu.2022.1011646.
Impact Factor: 7,3
Interferon-Driven Immune Dysregulation in Common Variable Immunodeficiency-Associated Villous Atrophy and Norovirus Infection
Strohmeier V, Andrieux G, Unger S, Pascual-Reguant A, Klocperk A, Seidl M, Marques OC, Eckert M, Gräwe K, Shabani M, von Spee-Mayer C, Friedmann D, Harder I, Gutenberger S, Keller B, Proietti M, Bulashevska A, Grimbacher B, Provaznik J, Benes V, Goldacker S, Schell C, Hauser AE, Boerries M, Hasselblatt P, Warnatz K
J Clin Immunol. 2022 Oct 25. doi: 10.1007/s10875-022-01379-2.
Impact Factor: 9,1
Allele-Specific Disruption of a Common STAT3 Autosomal Dominant Allele Is Not Sufficient to Restore Downstream Signaling in Patient-Derived T Cells
König S, Fliegauf M, Rhiel M, Grimbacher B, Cornu TI, Cathomen T, Mussolino C
Genes (Basel). 2022 Oct 20. doi: 10.3390/genes13101912.
Impact Factor: 3,5
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O’Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suegeorgz D, Szabolcs P, Velasco H, Warnatz K, Walkovich K, Worth A; STAT3 GOF Working Group members; Seppänen MRJ, Torgerson TR, Sogkas G, Ehl S, Tangye SG, Cooper MA, Milner JD, Forbes Satter LR
J Allergy Clin Immunol. 2022 Oct 11. doi: 10.1016/j.jaci.2022.09.002.
Impact Factor: 14,2
Deciphering imprints of impaired memory B-cell maturation in germinal centers of three patients with common variable immunodeficiency
van Schouwenburg P, Unger S, Payne KJ, Kaiser FMP, Pico-Knijnenburg I, Pfeiffer J, Hausmann O, Friedmann D, Erbel M, Seidl M, van Zessen D, Stubbs AP, van der Burg M, Warnatz K
Front Immunol. 2022 Oct 6. doi: 10.3389/fimmu.2022.959002.
Impact Factor: 7,3
Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency
Ogishi M, Arias AA, Yang R, Eun Han J, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, Lainé C, Seeleuthner Y, Ramírez-Alejo N, Nekooie-Marnany N, Guennoun A, Muller-Fleckenstein I, Fleckenstein B, Kilic SS, Minegishi Y, Ehl S, Kaiser-Labusch P, Kendir-Demirkol Y, Rozenberg F, Errami A, Zhang S-Y, Zhang Q, Bohlen J, Philippot Q, Puel A, Jouanguy E, Pourmoghaddas Z, Bakhtiar S, Willasch AM, Horneff G, Llanora G, Shek LP, Chai LYA, Tay SH, Rahimi HH, Mahdaviani SA, Nepesov S, A Bousfiha A, Erdeniz EH, Karbuz A, Marr N, Navarrete C, Adeli M, Hammarstrom L, Abolhassani H, Parvaneh N, Al Muhsen S, Alosaimi MF, Alsohime F, Nourizadeh M, Moin M, Arnaout R, Alshareef S, El-Baghdadi J, Genel F, Sherkat R, Kiykim A, Yücel E, Keles S, Bustamante J, Abel L, Casanova JL, Boisson-Dupuis S
J Exp Med. 2022 Oct 3. doi: 10.1084/jem.20220094.
Impact Factor: 15,3
The ABACHAI clinical trial protocol: Safety and efficacy of abatacept (s.c.) in patients with CTLA-4 insufficiency or LRBA deficiency: A non controlled phase 2 clinical trial
Krausz M, Uhlmann A, Rump IC, Ihorst G, Goldacker S, Sogkas G, Posadas-Cantera S, Schmidt R, Feißt M, Alsina L, Dybedal I, Recher M, Warnatz K, Grimbacher B
Contemp Clin Trials Commun. 2022 Sep 24. doi: 10.1016/j.conctc.2022.101008.
Impact Factor: 1,5
Identification of variants in genes associated with autoinflammatory disorders in a cohort of patients with psoriatic arthritis
Atschekzei F, Dubrowinskaja N, Anim M, Thiele T, Witte T, Sogkas G
RMD Open. 2022 Sep 8. doi: 10.1136/rmdopen-2022-002561.
Impact Factor: 6,2
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
Fliegauf M, Kinnunen M, Posadas-Cantera S, Camacho-Ordonez N, Abolhassani H, Alsina L, Atschekzei F, Bogaert DJ, Burns SO, Church JA, Dückers G, Freeman AF, Hammarström L, Hanitsch LG, Kerre T, Kobbe R, Sharapova SO, Siepermann K, Speckmann C, Steiner S, Verma N, Walter JE, Westermann-Clark E, Goldacker S, Warnatz K, Varjosalo M, Grimbacher B
Front Immunol. 2022 Aug 29. doi: 10.3389/fimmu.2022.965326.
Impact Factor: 7,3
Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI
Ramirez N, Posadas-Cantera S, Langer N, Caballero Garcia de Oteyza A, Proietti M, Keller B, Zhao F, Gernedl V, Pecoraro M, Eibel H, Warnatz K, Ballestar E, Geiger R, Bossen C, Grimbacher B
Front Immunol. 2022 Aug 16. doi: 10.3389/fimmu.2022.938240.
Impact Factor: 7,3
The long term vaccine-induced anti-SARS-CoV-2 immune response is impaired in quantity and quality under TNFα blockade
Geisen UM, Rose R, Neumann F, Ciripoi M, Vullriede L , Reid HM, Berner DK, Bertoglio F, Hoff P, Hust M, Longardt AC, Lorentz T, Rios Martini G, Saggau C, Schirmer JH, Schubert M, Sümbül M, Tran F, Voß M, Zeuner R, Morrison PJ, Bacher P, Fickenscher H, Gerdes S, Peipp M, Schreiber S, Krumbholz A, Hoyer BF
J Med Virol. 2022 Aug 9. doi: 10.1002/jmv.28063.
Impact Factor: 12,7
Human T-bet governs the generation of a distinct subset of CD11c high CD21 low B cells
Yang R, Avery DT, Jackson KJL, Ogishi M, Benhsaien I, Du L, Ye X, Han J, Rosain J, Peel JN, Alyanakian M-A, Neven B, Winter S, Puel A, Boisson B, Payne KJ, Wong M, Russell AJ, Mizoguchi Y, Okada S, Uzel G, Goodnow CC, Latour S, El Bakkouri J, Bousfiha A, Preece K, Gray PE, Keller B, Warnatz K, Boisson-Dupuis S, Abel L, Pan-Hammarström Q, Bustamante J, Ma CS, Casanova JL, Tangye SG
Sci Immunol. 2022 Jul 22. doi: 10.1126/sciimmunol.abq3277.
Impact Factor: 24,8
STAT3-confusion-of-function: beyond the loss and gain dualism
Lodi L, Faletti LE, Maccari ME, Consonni F, Groß M, Pagnini I, Ricci S, Heeg M, Simonini G, Azzari C, Ehl S
J Allergy Clin Immunol. 2022 Jun 21. doi: 10.1016/j.jaci.2022.06.007.
Impact Factor: 14,2
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations
Saghafi S, Zandieh F, Fazlollahi MR, Glocker C, Frede N, Buchta M, Yang L, Mahmoudi AH, Houshmand M, Pourpak Z, Grimbacher B, Moin M
Iran J Allergy Asthma Immunol. 2022 Jun 18. doi: 10.18502/ijaai.v21i3.9809.
Impact Factor: 1,5
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Wan R, Schieck M, Caballero-Oteyza A, Hofmann W, Cochino AV, Shcherbina A, Sherkat R, Wache-Mainier C, Fernandez A, Sultan M, Illig T, Grimbacher B, Proietti M, Steinemann D
J Clin Immunol. 2022 Apr 29. doi: 10.1007/s10875-022-01276-8.
Impact Factor: 9,1
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis
Albert MH, Slatter MA, Gennery AR, Güngör T, Bakunina K, Markovitch B, Hazelaar S, Sirait T, Courteille V, Aiuti A, Aleinikova OV, Balashov D, Bernardo ME, Bodova I, Bruno B, Cavazzana M, Chiesa R, Fischer A, Hauck F, Ifversen M, Kałwak K, Klein C, Kulagin A, Kupesiz A, Kuskonmaz B, Lindemans CA, Locatelli F, Lum SH, Maschan A, Meisel R, Moshous D, Porta F, Sauer MG, Sedlacek P, Schulz A, Suarez F, Vallée TC, Winiarski JH, Zecca M, Neven B, Veys P, Lankester AC
Blood. 2022 Mar 31. doi: 10.1182/blood.2021014687.
Impact Factor: 20,3
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity with Cancer Predisposition
Barmettler S, Sharapova SO, Milota T, Greif PA , Magg T, Hauck F
J Allergy Clin Immunol Pract. 2022 Mar 29. doi: 10.1016/j.jaip.2022.03.012.
Impact Factor: 9,4
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J , Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J, Rosenzweig SD, Latour S
Sci Immunol. 2022 Mar 25. doi: 10.1126/sciimmunol.abi7160.
Impact Factor: 24,8
Common Variable Immunodeficiency-Associated Cancers: The Role of Clinical Phenotypes, Immunological and Genetic Factors
Bruns L, Panagiota V, von Hardenberg S, Schmidt G, Adriawan IR, Sogka E, Hirsch S, Ahrenstorf G, Witte T, Schmidt RE, Atschekzei F, Sogkas G
Front. Immunol. 2022 Feb 17. doi: 10.3389/fimmu.2022.742530.
Impact Factor: 7,3
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency
Gothe F, Spegarova JS, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A , Hauck F, Reyburn HT, Duncan CJA, Hambleton S
J Allergy Clin Immunol. 2022 Feb 16. doi: 10.1016/j.jaci.2022.01.026.
Impact Factor: 14,2
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants
Hargreaves CE, Dhalla F, Patel AM, Caballero Garcia de Oteyza A, Bateman E, Miller J, Anzilotti C, Ayers L , Grimbacher B, Patel SY
Clin Immunol. 2022 Jan. doi: 10.1016/j.clim.2021.108910.
Impact Factor: 8,6
Dysregulated PI3K Signaling in B Cells of CVID Patients
Harder I, Münchhalfen M, Andrieux G, Boerries M, Grimbacher B, Eibel H, Maccari ME, Ehl S, Wienands J, Jellusova J, Warnatz K, Keller B
Cells. 2022 Jan 28. doi: 10.3390/cells11030464.
Impact Factor: 6,0
Treatment of STAT3 Deficient Hyper IgE Syndrome with Monoclonal Antibodies Targeting Allergic Inflammation
James AE, West L, Schloss K, Nataraj P, Urban A, Hirsch A, Krausz M, Kumar S, Raasch J, Risma K, Church JA, Grimbacher B, Bergerson JRE, Chong H, Freeman AF
J Allergy Clin Immunol Pract. 2022 Jan 24. doi: 10.1016/j.jaip.2022.01.011.
Impact Factor: 9,4
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders
Sperlich JM, Grimbacher B, Soetedjo V, Workman S, Burns SO, Lowe DM, Hurst JR
J Clin Immunol. 2022 Jan 11. doi: 10.1007/s10875-022-01206-8.
Impact Factor: 9,1
The Neurokinin-1 Receptor Is a Target in Pediatric Rhabdoid Tumors
Kolorz J, Demir S, Gottschlich A, Beirith I, Ilmer M, Lüthy D, Walz C, Dorostkar MM, Magg T, Hauck F , von Schweinitz D, Kobold S, Kappler R, Berger M
Curr Oncol. 2021 Dec 26. doi: 10.3390/curroncol29010008.
Impact Factor: 3,109
Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1
Anim M, Sogkas G, Schmidt G, Dubrowinskaja N, Witte T, Schmidt RE, Atschekzei F
Front Immunol. 2021 Dec 24. doi: 10.3389/fimmu.2021.767188.
Impact Factor: 8,786
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity
Perelygina L, Faisthalab R, Abernathy E, Chen M-H, Hao LJ, Bercovitch L, Bayer DK, Noroski LM, Lam MT, Cicalese MP, Al-Herz W, Nanda A , Hajjar J, Driessche KV, Schroven S, Leysen J, Rosenbach M, Peters P, Raedler J, Albert MH, Abraham RS, Rangarjan HG, Buchbinder D, Kobrynski L, Pham-Huy A, Dhossche J, Rundles C, Meyer AK, Theos A, Atkinson PT, Musiek A, Adeli M, Derichs U, Walz C, Krüger R, von Bernuth H, Klein C, Icenogle J, Hauck F, Sullivan KE
Front Immunol. 2021 Dec 20. doi: 10.3389/fimmu.2021.796065.
Impact Factor: 8,786
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study
Rojas-Restrepo J, Caballero-Oteyza A, Huebscher K , Haberstroh H, Fliegauf M, Keller B, Kobbe R, Warnatz K, Ehl S, Proietti M, Grimbacher B
Front Immunol. 2021 Dec 17. doi: 10.3389/fimmu.2021.786516.
Impact Factor: 8,786
Phenotype, genotype, treatment, and survival outcomes in patients with X-linked inhibitor of apoptosis deficiency
Yang L, Booth C, Speckmann C, Seidel MG, Worth AJ, Kindle G, Lankester AC, Grimbacher B, ESID Clinical and Registry Working Parties; Gennery AR, Seppanen MRj, Morris EC, Burns SO
J Allergy Clin Immunol. 2021 Dec 14. doi: 10.1016/j.jaci.2021.10.037.
Impact Factor: 14,290
Humoral protection to SARS-CoV2 declines faster in patients on TNF alpha blocking therapies
Geisen UM, Sümbül M, Tran F, Berner DK, Reid HM, Vullriede L, Ciripoi M, Longardt AC, Hoff P, Morrison PJ, Schneider VE, Zeuner R, Schirmer JH, Steinbach A, Nikolaus S, Gerdes S, Schreiber S, Bacher P , Hoyer BF
RMD Open. 2021 Dec 7. doi: 10.1136/rmdopen-2021-002008.
Impact Factor: 5,806
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
Seidel MG, Tesch VK, Yang L, Hauck F, Horn AL, Smolle MA, Quehenberger F, Benesch M
J Clin Immunol. 2021 Nov 19. doi: 10.1007/s10875-021-01177-2.
Impact Factor: 8,542
BTK operates a phospho-tyrosine switch to regulate NLRP3 inflammasome activityency
Bittner ZA, Liu X, Tortola MM, Tapia-Abellán A, Shankar S, Andreeva L, Mangan M, Spalinger M, Kalbacher H, Düwell P, Lovotti M, Bosch K, Dickhöfer S, Marcu A, Stevanović S, Herster F, Gloria YC, Chang T-H, Bork F, Greve CL, Löffler MW, Wolz O-O, Schilling NA, Kümmerle-Deschner JB, Wagner S, Delor A, Grimbacher B, Hantschel O, Scharl M, Wu H, Latz E, Weber A NR
J Exp Med. 2021 Nov 1. doi: 10.1084/jem.20201656.
Impact Factor: 17,579
The expansion of human T-bet high CD21 low B cells is T cell dependent
Keller B, Strohmeier V, Harder I, Unger S, Payne KJ, Andrieux G, Boerries M, Felixberger PT , Landry JJM, Nieters A, Rensing-Ehl A, Salzer U, Frede N, Usadel S, Elling R, Speckmann C, Hainmann I, Ralph E, Gilmour K, Wentink MWJ, van der Burg M, Kuehn HS, Rosenzweig SD, Kölsch U, von Bernuth H, Kaiser-Labusch P, Gothe F, Hambleton S, Vlagea AD, Garcia AG , Alsina L, Markelj G, Avcin T, Vasconcelos J, Guedes M, Ding J-Y, Ku CL, Shadur B, Avery DT, Venhoff N, Thiel J, Becker H, Erazo-Borrás L, Trujillo-Vargas CM, Franco JL, Fieschi C, Okada S, Gray PE, Uzel G, Casanova JL, Fliegauf M, Grimbacher B, Eibel H, Ehl S, Voll RE, Rizzi M, Stepensky P, Benes V, Ma CS, Bossen C, Tangye SG, Warnatz K
Sci Immunol. 2021 Oct 15. doi: 10.1126/sciimmunol.abh0891.
Impact Factor: 30,663
Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency
Sogkas G, Dubrowinskaja N, Schütz K, Steinbrück L, Götting J, Schwerk N, Baumann U, Grimbacher B, Witte T, Schmidt RE, Atschekzei F
Int Arch Allergy Immunol. 2021 Oct 7. doi: 10.1159/000519199.
Impact Factor: 3,767
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation
van Schewick CM, Lowe DM, Burns SO, Workman S, Symes A, Guzman D, Moreira F, Watkins J, Clark I, Grimbacher B
J Clin Immunol. 2021 Oct 1. doi:10.1007/s10875-021-01104-5.
Impact Factor: 8,542
Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis
Adriawan IR, Atschekzei F, Dittrich-Breiholz O, Garantziotis P, Hirsch S, Risser LM, Kosanke M, Schmidt RE, Witte T, Sogkas G
Ann Rheum Dis. 2021 Sep 28. doi: 10.1136/annrheumdis-2021-220955.
Impact Factor: 27,973
Early-onset, fatal interstitial lung disease in STAT3 gain-of-function patients
Gothe F, Gehrig J, Rapp CK, Knoflach K, Reu-Hofer S, Länger F, Schramm D, Ley-Zaporozhan J, Ehl S, Schwerk N, Faletti L, Griese M
Pediatr Pulmonol. 2021 Sep 22. doi: 10.1002/ppul.25684.
Impact Factor: 4,090
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Lenz D, Pahl J, Hauck F, Alameer S, Balasubramanian M, Baric I, Boy N, Church JA, Crushell E, Dick A, Distelmaier F, Gujar J, Indolfi G, Lurz E, Peters B, Schwerd T, Serranti D, Kölker S, Klein C, Hoffmann GF, Prokisch H, Greil J, Cerwenka A, Giese T, Staufner C
J Clin Immunol. 2021 Aug 13. doi: 10.1007/s10875-021-01110-7.
Impact Factor: 8,542
TACI deficiency – a complex system out of balance
Salzer U, Grimbacher B
Curr Opin Immunol. 2021 Jul 8. doi: 10.1016/j.coi.2021.06.004.
Impact Factor: 7,268
B cell depletion impairs vaccination-induced CD8 + T cell responses in a type I interferon-dependent manner
Graalmann T, Borst K, Manchanda H, Vaas L, Bruhn M, Graalmann L, Koster M, Verboom M, Hallensleben M, Guzmán CA, Sutter G, Schmidt RE, Witte T, Kalinke U
Ann Rheum Dis. 2021 Jul 5. doi: 10.1136/annrheumdis-2021-220435.
Impact Factor: 27,973
Pembrolizumab for treatment of progressive multifocal leukoencephalopathy in primary immunodeficiency and/or hematologic malignancy: a case series of five patients
Volk T, Warnatz K, Marks R, Urbach H, Schluh G, Strohmeier V, Rojas-Restrepo J, Grimbacher B, Rauer S
J Neurol. 2021 Jul 1. doi: 10.1007/s00415-021-10682-8.
Impact Factor: 6,682
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency
Le Voyer T, Sakata S, Tsumura M, Khan T, Esteve-Sole A, Al-Saud BK, Gungor HE, Taur P, Jeanne-Julien V, Christiansen M, Köhler LM, ElGhazali GE, Rosain J, Nishimura S, Sakura F, Bouaziz M, Oleaga-Quintas C, Nieto-Patlán A, Deyà-Martinez À, Altuner Torun Y, Neehus AL, Roynard M, Bozdemir SE, Al Kaabi N, Al Hassani M, Mersiyanova I, Rozenberg F, Speckmann C, Hainmann I, Hauck F, Alzahrani MH, Alhajjar SH, Al-Muhsen S, Cole T, Fuleihan R, Arkwright PD, Badolato R, Alsina L, Abel L, Desai M, Al-Mousa H, Shcherbina A, Marr N, Boisson-Dupuis S, Casanova JL, Okada S, Bustamante J
J Immunol. 2021 Jun 28. doi: 10.4049/jimmunol.2001451.
Impact Factor: 5,446
There is no gene for CVID – novel monogenetic causes for primary antibody deficiency
Ramirez NJ, Posadas-Cantera S, Caballero-Oteyza A, Camacho-Ordonez N, Grimbacher B
Curr Opin Immunol. 2021 Jun 18. doi: 10.1016/j.coi.2021.05.010.
Impact Factor: 7,268
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F
Sci Immunol. 2021 Jun 18. doi: 10.1126/sciimmunol.abf9564.
Impact Factor: 30,663
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency
Lanz AL, Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F
Clin Immunol. 2021 Jun 8. doi: 10.1016/j.clim.2021.108779.
Impact Factor: 10,190
Therapeutic options for CTLA-4 Insufficiency
Egg D, Rump IC, Mitsuiki N, Rojas-Restrepo J, Maccari M-E, Schwab C, Gabrysch A, Warnatz K, Goldacker S, Patiño V, Wolff D, Okada S, Hayakawa S, Shikama Y, Kanda K, Imai K, Sotomatsu M, Kuwashima M, Kamiya T, Morio T, Matsumoto K, Mori T, Yoshimoto Y, Dybedal I, Kanariou M, Yesim Kucuk Z, Chapdelaine H, Petruzelkova L, Lorenz H-M, Sullivan KE, Heimall J, Moutschen M, Litzman J, Recher M, Albert MH, Hauck F, Seneviratne S, Pachlopnik Schmid J, Kolios A, Unglik G, Klemann C, Snapper S, Giulino-Roth L, Svaton M, Platt CD, Hambleton S, Neth O, Gosse G, Reinsch S, Holzinger D, Kim Y-J, Bakhtiar S, Atschekzei F, Schmidt RE, Sogkas G, Chandrakasan S, Rae W, Derfalvi B, Marquart HV, Ozen A, Kiykim A, Karakoc-Aydiner E, Králíčková P, de Bree G, Kiritsi D, Seidel MG, Kobbe R, Dantzer J, Alsina L, Armangue T, Lougaris V, Agyeman P, Nyström S, Buchbinder D, Arkwright PD, Grimbacher B
J Allergy Clin Immunol. 2021 Jun 7. doi:10.1016/j.jaci.2021.04.039.
Impact Factor: 14,290
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency
Raedler J, Magg T, Rohlfs M, Klein C, Vallée T, Hauck F, Albert MH
J Clin Immunol. 2021 Jun 2. doi: 10.1007/s10875-021-01069-5.
Impact Factor: 8,542
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32
Lehmkuhl P, Gentz M, Caballero Garcia de Otezya A, Grimbacher B, Schulze-Koops H, Skapenko A
Cell Mol Immunol. 2021 May 31. doi: 10.1038/s41423-021-00701-z.
Impact Factor: 22,096
Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction
Català-Moll F, Ferreté-Bonastre AG, Li T, Weichenhan D, Lutsik P, Ciudad L, Álvarez-Prado AF, Rodríguez-Ubreva J, Klemann C, Speckmann C, Vilas-Zornoza A, Abolhassani H, Martínez-Gallo M, Dieli-Crimi R, Rivière JG, Martín-Nalda A, Colobran R, Soler-Palacín P, Kracker S, Hammarström L, Prosper F, Durandy A, Grimbacher B, Plass C, Ballestar E
Nucleic Acids Res. 2021 May 5. doi: 10.1093/nar/gkab322.
Impact Factor: 19,160
A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage
Fliegauf M, Krüger R, Steiner S, Hanitsch LG, Büchel S, Wahn V, von Bernuth H, Grimbacher B
Front Immunol. 2021 Apr 27. doi: 10.3389/fimmu.2021.621503.
Impact Factor: 8,786
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: 22,096
Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes
Gámez-Díaz L, Grimbacher B
Biomed J. 2021 Apr. doi: 10.1016/j.bj.2021.04.005.
Impact Factor: 7,892
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.
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Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype
Faletti L, Ehl S, Heeg M
Biomed J. 2021 Mar 20. doi: 10.1016/j.bj.2021.03.003.
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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.
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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.
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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.
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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.
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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. doi: 10.1182/blood.2020006738.
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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
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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. doi: 10.1136/annrheumdis-2020-218280.
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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.
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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
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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. doi: 10.3389/fimmu.2020.01654.
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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. doi: 10.3324/haematol.2019.242990.
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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. doi: 10.1016/j.ajhg.2020.05.006.
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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. doi: 10.1016/j.jaip.2020.06.034.
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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
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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.
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome
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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
J Allergy Clin Immunol. 2020 May 1. doi: 10.1016/j.jaci.2019.12.896.
Impact Factor: 10,793
Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
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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. doi: 10.1016/j.jaip.2019.11.039.
Impact Factor: 8,861
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: 8,317
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. doi: 10.1016/j.clim.2019.108316.
Impact Factor: 3,969
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. doi: 10.3389/fimmu.2019.02618.
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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. doi: 10.1016
Impact Factor: 3,368
Editorial: The Relationship Between Cancer Predisposition and Primary Immunodeficiency
Hauck F, Gennery A, Seidel M
Front Immunol. 2019. doi: 10.3389/fimmu.2019.01781.
Impact Factor: 5,085