Publikationen

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: 17,579 (2021)

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: nicht verfügbar

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: 5,806 (2021)

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: 8,786 (2021)

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: 8,786 (2021)

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: 20,693 (2021)

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: 30,663 (2021)

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: 14,290 (2021)

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: 1,570 (2021)

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: 8,542 (2021)

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: 25,476 (2021)

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: 11,022 (2021)

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: 30,663 (2021)

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: 8,786 (2021)

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: 14,290 (2021)

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: 10,190 (2021)

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: 7,666 (2021)

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: 11,022 (2021)

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: 8,542 (2021)

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