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CeMM Adjunct Principal Investigator

Kaan Boztug

Genome-based precision medicine for childhood immune and hematological diseases

Director, CeRUD Vienna Center for Rare und Undiagnosed Diseases 
Scientific Director, St. Anna Children’s Cancer Research Institute (CCRI)

Professor of Pediatrics and Adolescent Medicine, Medical University of Vienna
Consultant in Pediatric Hematology, Oncology and Immunology, St. Anna Children’s Hospital Vienna

+43 1 40160 70069
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Selected Papers

Inherited defects of the immune system (so-termed “primary immunodeficiencies”, PID) represent unique models to dissect essential components of the immune system in natura. A considerable number of PIDs are characterized by autoimmunity or autoinflammation. Autoimmunity is the failure of the immune system to distinguish between the body’s own cells and cells of invading pathogens, which results in an inappropriate immune attack on organs and tissues. Many human diseases are characterized by a multitude of autoimmune phenomena, however, the molecular mechanisms are often poorly understood.

Our group works on understanding some of the molecular processes that control immune homeostasis and autoimmunity using model diseases such as PIDs with immune dysregulation or inflammatory bowel disease. To do this, we utilize state-of-the art genomic approaches including exome sequencing of patient samples to identify causative genetic mutations, combined with a variety of functional assays. The ultimate aim of our research is to enhance the molecular understanding of these disorders to enable the use of tailored treatment approaches.

Genomics approaches for studying immunodeficiency disorders

Much effort has been spent on investigating autoimmunity in animal models. However our observations in the clinic show that only a fraction of patients respond to conventional therapies that are based on these models, underlining the need to understand the pathophysiologic mechanisms specifically in humans in better detail.

We study patients suffering from inherited defects of their immune systems, so-called primary immunodeficiency disorders. In addition to the classical presentation with increased infections, many patients show features of sometimes severe autoimmunity and immune dysregulation, thus providing the unique opportunity to dissect some of the molecular mechanisms in natura.

We use genomics approaches such as single nucleotide polymorphism (SNP) analysis and exome sequencing of patient samples to pinpoint the underlying genetic mutation. We then delve into the molecular mechanisms using cultured cells and a variety of molecular biology assays. These investigations will potentially have an immediate impact on our understanding of the molecular architecture of the immune system.

Molecular genetics of childhood leukemias

We are also studying the genetics of malignant disorders of childhood. In conjunction with other groups at CeMM, we study patients with leukemias to identify their underlying genomic aberrations. We then combine these data with detailed drug-sensitivity testing to predict vulnerabilities of the leukemic blasts for each patient as a proof-of-concept for future personalized treatment of cancer patients in the future.


Kaan Boztug joined CeMM as principal investigator in 2011. He studied medicine at the Universities of Dusseldorf, Freiburg (DE), and London (UK), followed by graduate training with Iain L. Campbell at the Scripps Research Institute, La Jolla (USA) and postgraduate research and clinical training with Christoph Klein at Hanover Medical School (DE). His laboratory combines next-generation sequencing and molecular biological techniques with system biology approaches to understand the genetics and molecular pathomechanisms of rare disorders of hematopoiesis and immunity. In 2019, Kaan Boztug took over the agendas of scientific director at St. Anna Children’s Cancer Research Institute (CCRI). He is director of CeRUD Vienna Center for Rare and Undiagnosed Diseases and the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD). He holds a dual appointment as professor of pediatrics and adolescent medicine at MedUni Vienna and as consultant in pediatric hematology and oncology and head of immunology at St. Anna Children’s Hospital. He received a Starting Grant of the European Research Council (ERC) in 2012 and an ERC Consolidator Grant in 2018. In 2019, Kaan Boztug was awarded the Johann Wilhelm Ritter von Mannagetta Prize for Medicine of the Austrian Academy of Sciences. In 2022, he was awarded a corresponding membership in the Austrian Academy of Sciences (ÖAW) in the Division of Mathematics and Natural Sciences.

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Selected Papers

Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency. N Engl J Med. 2023 Jun 21. (abstract)

Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation. Blood Adv. 2022 Apr 12;6(7):2444-2451. (abstract)

Shahin T et al. Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity. Sci Immunol. 2021 Nov 26;6(65):eabe3981. (abstract)

Wang L, Aschenbrenner D, Zeng Z, et al. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. Nat Genet. 2021 Apr;53(4):500-510. (abstract)

Kalinichenko A et al. RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis. Blood. 2021 Apr 15;137(15):2033-2045. (abstract)

Somekh I*, Thian M*, et al. CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 Oct 31;134(18):1510-1516. (abstract)

Domínguez Conde C*, Petronczki ÖY*, Baris S*, Willmann KL*, et al. Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress. J Clin Invest. 2019 Oct 1;129(10):4194-4206. (abstract)

Serwas NK*, Hoeger B*, et al. Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis. Nat Commun. 2019 Jul 15;10(1):3106. (abstract)

Ozen A*, Comrie WA*, Ardy RC*, et al. CD55 deficiency, early-onset protein-losing enteropathy, and thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. (abstract)

Salzer E, et al. RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics. Nat Immunol. 2016 Dec;17(12):1352-1360. (abstract)

Dobbs K*, Zhang S-Y*, Domínguez Conde C*, Parolini S*, et al. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. New Engl J Med. 2015 Jun 18;372(25):2409-22. (abstract)

Woutsas S et al (2015). Hypomorphic mutation in TTC7A causes combined immunodeficiency wild mild structural intestinal defects. Blood. 2015 Mar 5;125(10):1674-6. (abstract)

Serwas NK et al (2015). Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype. Inflamm Bowel. 2015 Jan;21(1):40-7. (abstract)

Willmann KL*, Klaver S* et al (2014). Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity. Nature Commun. 2014 Nov 19;5:5360. (abstract)

Ban SA et al (2014). Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3. J Clin Immunol. 2014 Nov;34(8):941-53. (abstract)

Boztug K, et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014 Sep;46(9):1021-7. (abstract)

Serwas NK et al (2014). Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T cell lymphopenia. Blood. 2014 Jul 24;124(4):655-7. (abstract)

Salzer E et al (2014). Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by loss-of-function mutation in IL21. J Allergy Clin Immunol. 2014 Jun;133(6):1651-9.e12. (abstract)

Salzer E*, Santos-Valente E* et al (2013). B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. Blood. 2013 Apr 18;121(16):3112-6. (abstract)

Santos-Valente et al (2013). A novel mutation in the complement component 3 gene in a patient with selective IgA deficiency. J Clin Immunol. 2013 Jan;33(1):127-33. (abstract)

Glocker EO*, Kotlarz D*, Boztug K* et al (2009). Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. New Engl J Med. 2009 Nov 19;361(21):2033-45. (abstract) 

Boztug K et al (2009). A syndrome with congenital neutropenia and mutations in G6PC3. New Engl J Med. 2009 Jan 1;360(1):32-43. (abstract)

* shared first authorship

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