email: kaan [dot] boztugrud [dot] lbg [dot] ac [dot] at
Kaan Boztug studied Medicine in Düsseldorf (DE), Freiburg (DE) and London (UK), followed by his graduate training with Iain Campbell at the Scripps Research Institute in La Jolla (US), and postgraduate research with Christoph Klein at Hannover Medical School (DE). In 2011, Kaan Boztug joined the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences as a Principal Investigator, and became director of the newly established Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases in April 2016. He is also the head oft he CeRUD Vienna Center for Rare and Undiagnosed diseases as the Jeffrey Modell Foundation Diagnostic and Research Center Vienna.
Kaan Boztug holds a dual apppointment as Associate Professor at the Department for Pediatrics and Adolescent Medicine at the Medical University of Vienna, and is a Consultant in Pediatric Hemato-oncology and Immunology, and the Head of Pediatric Immunology at St. Anna Children’s Hospital.
With his research team, Kaan Boztug has made seminal contributions to the field of rare defects of the immune system and hematopoieses including neutrophil disorders such as G6PC3 and JAGN1 deficiency, IL10R and IL21 deficiency as Mendelian types of early-onset inflammatory bowel disease, and deficiencies of PRKCD, NIK, DOCK2 and RASGRP1 causing combined immunodeficiency syndromes.
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.
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*, Boztuğ 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.
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, Boztuğ 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.
Kaan Boztug, 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.
Full list of publications: PubMed
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