Selected publications
Saluzzo S, Pandey RV, Laura Marie Gail LM, Dingelmaier-Hovorka R, Kleissl L, Shaw L, Reininger B, Atzmüller D, Strobl J, Touzeau-Römer V, Beer A, Staud C, Rieger A, Farlik M, Weninger W, Stingl G, and Stary G. Delayed antiretroviral therapy in HIV-infected individuals leads to irreversible depletion of skin- and mucosa-resident memory T cells. Immunity (2021) doi: https://doi.org/10.1016/j.immuni.2021.10.021
Buphamalai P, Kokotovic T, Nagy V, and Menche J. Network analysis reveals rare disease signatures across multiple levels of biological organization. Nat Commun 12, 6306 (2021) doi: https://doi.org/10.1038/s41467-021-26674-1
Kokotović T, Langeslag M, Lenartowicz EM, Manion J, Fell CW., Alehabib E, Tafakhori A, Darvish H, Bellefroid EJ, Neely GG, Kress M, Penninger JM, Nagy V. PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life. Frontiers in Molecular Neuroscience 14, pp.: 192 (2021) doi: 10.3389/fnmol.2021.720973
Freyberger F, Kokotović T, Krnjak G, Frković SH, Nagy V Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients. Human Genome Variation 8, article number: 37 (2021) doi: https://doi.org/10.1038/s41439-021-00169-3
Domínguez Conde C*, Petronczki ÖY*, Baris S*, Willmann KL*, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou J, Ozen A, van der Burg M, Boztug K. Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress. J Clin Invest. 2019 Aug 26. pii: 128903. doi: 10.1172/JCI128903. (* shared first authorship)
Schuler F, Afreen S, Manzl C, Häcker G, Erlacher M, Villunger A. Checkpoint kinase 1 is essential for fetal and adult hematopoiesis. EMBO Rep. 2019 Aug;20(8):e47026. doi: 10.15252/embr.201847026.
Halbritter F*, Farlik M*, Schwentner R, Jug G, Fortelny N, Schnöller T, Pisa H, Schuster LC, Reinprecht A, Czech T, Gojo J, Holter W, Minkov M, Bauer WM, Simonitsch-Klupp I, Bock C§, Hutter C§. Epigenomics and single-cell sequencing define a developmental hierarchy in Langerhans cell histiocytosis. Cancer Discov. 2019 Jul 25. doi: 10.1158/2159-8290.CD-19-0138. (* shared first authorship; § shared senior and corresponding authorship)
Serwas NK*, Hoeger B*, Ardy RC, Stulz SV, Sui Z, Memaran N, Meeths M, Krolo A, Petronczki ÖY, Pfajfer L, Hou TZ, Halliday N, Santos-Valente E, Kalinichenko A, Kennedy A, Mace EM, Mukherjee M, Tesi B, Schrempf A, Pickl WF, Loizou JI, Kain R, Bidmon-Fliegenschnee B, Schickel JN, Glauzy S, Huemer J, Garncarz W, Salzer E, Pierides I, Bilic I, Thiel J, Priftakis P, Banerjee PP, Förster-Waldl E, Medgyesi D, Huber WD, Orange JS, Meffre E, Sansom DM, Bryceson YT, Altman A, Boztug K. Human DEF6 deficiency underlies a novel immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nat Commun. 2019 Jul 15;10(1):3106. doi: 10.1038/s41467-019-10812-x. (* shared first authorship)
Nagy V§, Hollstein R, Pai TP, Herde MK, Buphamalai P, Moeseneder P, Lenartowicz E, Kavirayani A, Korenke GC, Kozieradzki I, Nitsch R, Cicvaric A, Monje Quiroga FJ, Deardorff MA, Bedoukian EC, Li Y, Yigit G, Menche J, Perçin EF, Wollnik B, Henneberger C, Kaiser FJ, Penninger JM§. HACE1 deficiency leads to structural and functional neurodevelopmental defects. Neurol Genet. 2019 Apr 29;5(3):e330. doi: 10.1212/NXG.0000000000000330. (§ shared corresponding authorship)
Desiderio S*, Vermeiren S*, Van Campenhout C, Kricha S, Malki E, Fletcher VE, Vanwelden T, Schmidt BZ, Henningfeld KA, Pieler T, Woods CG, Nagy V#, Verfaillie C#, Bellefroid EJ#§. Prdm12 directs nociceptive sensory neuron development by regulating the expression of the NGF receptor TrkA. Cell Rep. 2019 Mar 26;26(13):3522-3536.e5. doi: 10.1016/j.celrep.2019.02.097. (* shared first authorship; # shared senior authorship; § corresponding author)
Pfajfer L*, Mair NK*, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L§, Boztug K§. Mutations affecting the actin regulator WDR1 lead to aberrant lymphoid immunity. J Allergy Clin Immunol. 2018 Nov;142(5):1589-1604.e11. doi: 10.1016/j.jaci.2018.04.023. (* shared first authorship; § shared senior and corresponding authorship)
Van Rijn JM*, Ardy RC*, Kuloglu Z*, Härter B*, van Haaften-Visser DY*, van Hoesel M, Kansu A, van Vugt AHM, Ng M, Kokke FTM, Krolo A, Basaran Keceli M, Gurcan N, Ozcay F, Baris Z, van der Doef H, Kain R, Stigter E, Lichtenbelt KD, Massink MPG, Duran KJ, Verhaij J, Lugtenberg D, Nikkels PJG, Verkade H, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke A, van Haaften G, Houwen RHJ, Müller T#, Middendorp S#§, Boztug K#§. Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. (* shared first authorship, # equal contribution, § shared senior and corresponding authorship)
Schuler F, Weiss JG, Lindner SE, Lohmüller M, Herzog S, Spiegl SF, Menke P, Geley S, Labi V, Villunger A. Checkpoint kinase 1 is essential for normal B cell development and lymphomagenesis. Nat Commun. 2017 Nov 22;8(1):1697. doi: 10.1038/s41467-017-01850-4.
Pfajfer L*, Seidel MG*, Houmadi R, Rey-Barroso J, Hirschmugl T, Salzer E, Antón IM, Urban C, Schwinger W, Boztug K§, Dupré L§. WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly. Blood. 2017 Oct 26;130(17):1949-1953. doi: 10.1182/blood-2017-04-777383. (* shared first authorship; § shared senior and corresponding authorship)
Ozen A*, Comrie WA*, Ardy RC*, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K§, Lenardo MJ§. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. (* shared first authorship; § shared senior and corresponding authorship)
Sheffield NC, Pierron G, Klughammer J, Datlinger P, Schönegger A, Schuster M, Hadler J, Surdez D, Guillemot D, Lapouble E, Freneaux P, Champigneulle J, Bouvier R, Walder D, Ambros IM, Hutter C, Sorz E, Amaral AT, de Álava E, Schallmoser K, Strunk D, Rinner B, Liegl-Atzwanger B, Huppertz B, Leithner A, de Pinieux G, Terrier P, Laurence V, Michon J, Ladenstein R, Holter W, Windhager R, Dirksen U, Ambros PF, Delattre O#, Kovar H#, Bock C#§, Tomazou EM#§. DNA methylation heterogeneity defines a disease spectrum in Ewing sarcoma. Nat Med. 2017 Mar;23(3):386-395. doi: 10.1038/nm.4273. (# shared senior authorship; § corresponding author)
Salzer E, Cagdas D#, Hons M#, Mace EM#, Garncarz W, Petronczki ÖY, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, McClanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupré L, Sanal Ö, Jäger U, Sixt M#, Tezcan I#, Orange JS#, Boztug K. RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat Immunol. 2016 Dec;17(12):1352-1360. doi: 10.1038/ni.3575. (# equal contribution)
Reiberger T, Chen Y, Ramjiawan RR, Hato T, Fan C, Samuel R, Roberge S, Huang P, Lauwers GY, Zhu AX, Bardeesy N, Jain RK, Duda DG. An orthotopic mouse model of hepatocellular carcinoma with underlying liver cirrhosis. Nat Protoc. 2015 Aug;10(8):1264-74. doi: 10.1038/nprot.2015.080.
Dobbs K*, Domínguez Conde C*, Zhang SY*, Parolini S*, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH#, İkincioğulları A#, Al-Herz W#, Helminen M#, Doğu F#, Casanova JL#§, Boztug K#§, Notarangelo LD#§. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18;372(25):2409-22. doi: 10.1056/NEJMoa1413462. (* shared first authorship, # equal contribution; § shared senior and corresponding authorship)
Stary G*§, Olive A*, Radovic-Moreno AF*, Gondek D, Alvarez D, Basto PA, Perro M, Vrbanac VD, Tager AM, Shi J, Yethon JA, Farokhzad OC, Langer R, Starnbach MN, von Andrian UH§. A mucosal vaccine against Chlamydia trachomatis generates two waves of protective memory T cells. Science. 2015 Jun 19;348(6241):aaa8205. doi: 10.1126/science.aaa8205. (* shared first authorship; § corresponding author)
Willmann KL*, Klaver S*, Doğu F, Santos-Valente E, Garncarz W, Bilic I, Mace E, Salzer E, Conde CD, Sic H, Májek P, Banerjee PP, Vladimer GI, Haskoloğlu S, Bolkent MG, Küpesiz A, Condino-Neto A, Colinge J, Superti-Furga G, Pickl WF, van Zelm MC, Eibel H, Orange JS, Ikincioğulları A, Boztug K. Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. Nat Commun. 2014 Nov 19;5:5360. doi: 10.1038/ncomms6360. (* shared first authorship)
Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, Brandes G, Sherkat R, van der Werff Ten Bosch J, Rezaei N, Etzioni A, Bellanné-Chantelot C, Superti-Furga G, Penninger JM, Bennett KL, von Blume J, Dell A, Donadieu J, Klein C. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069.
Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C. Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med. 2010 Nov 11;363(20):1918-27. doi: 10.1056/NEJMoa1003548.