Publikationen

Förderkennzeichen: 01GM2206A Freiburg, 01GM2206B Hannover, 01GM2206C Dresden, 01GM2206D München

Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitishttps://pubmed.ncbi.nlm.nih.gov/38593810/

Nurmi K, Silventoinen K, Keskitalo S, Rajamäki K, Kouri VP, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juárez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordström DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck F, Jahkola T, Hautala T, Varjosalo M, Barreto G, Seppänen MRJ, Eklund KK.
Cell Rep Med. 2024 Apr 16. doi: 10.1016/j.xcrm.2024.101503.
Impact Factor: 14,3 (2022)

Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy

Seidel MG, Hauck F.
J Allergy Clin Immunol. 2024 Mar. doi: 10.1016/j.jaci.2023.12.022.
Impact Factor: 14,2 (2022)

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.
Impact Factor: 41,379

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.
Impact Factor: 7,892

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: 27,973

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: 8,542

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: 14,290

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: 8,542

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.
Impact Factor: 23,629

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: 14,919

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.
Impact Factor: 19,103

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: 5,742

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. doi: 10.1038/s41590-020-0714-5.
Impact Factor: 25,606

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.
Impact Factor: 7,561

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.
Impact Factor: 9,941

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.
Impact Factor: 11,025

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.
Impact Factor: 8,861

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. doi: 10.1182/blood.2020005957.
Impact Factor: 23,629

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: 8,317

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. doi: 10.1084/jem.20191804.
Impact Factor: 14,307

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

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. doi: 10.1016/j.jaci.2019.11.051.
Impact Factor: 10,793

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.
Impact Factor: 5,085

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