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                                                            Research topics

                                                            • Neutrophil Granulocytes
                                                            • Primary Immunodeficiency Disorders
                                                            • Gene Therapy

                                                            Prof. Christoph Klein

                                                            ✉ christoph.klein@med.uni-muenchen.de

                                                            ☎ +49-89-4400-57701


                                                            Assistant: Gerlinde Graf

                                                            ✉ gerlinde.graf@med.uni-muenchen.de

                                                            ☎ +49-89-4400-57701

                                                            Our mission is to understand the basic principles of the blood and immune system by studying children with rare inherited disorders. Starting with the analysis of the patients’ phenotype, we unravel the genetic etiology of rare diseases using a variety of in vitro and in vivo models. We aim to develop novel therapeutic strategies with a particular focus on cell and gene therapy.

                                                            Neutrophil  granulocytes in health and disease
                                                            Subcellular localization of genetic defects associated with severe congenital neutropenia (modified from Boztug and Klein, 2011)


                                                            Severe congenital neutropenia (SCN) is a rare heterogeneous genetic disorder caused by abnormal myeloid differentiation and susceptibility to severe bacterial or fungal infections. Several disease-causing genetic defects have been identified (e.g. ELANE, HAX1, G6PC3, GCSFR, JAGN1, VPS45, SMARCD2, SRP54). Despite this progress, the molecular etiology in many patients with neutrophil disorders as well as the epistatic relationships remain enigmatic.

                                                            Our research is directed towards identification of hitherto unknown genetic defects and towards a systems-biology approach to define principles that orchestrate differentiation and function of neutrophil granulocytes. We make use of induced pluripotent stem cells in combination with CRISPR-Cas-based genome editing technology as well as cell biological and multi-omics analysis to address specific questions. 

                                                            Elucidating the molecular mechanisms of monogenetic immunodeficiencies

                                                            Inborn errors of immunity (IEI) are rare genetic diseases of the immune system, characterized by immunodeficiency, autoimmunity, autoinflammation, or predisposition to cancer. With our dynamic team of clinicians, bioinformaticians and lab-based biologists, we aim to explore PIDs and identify their underlying genetic cause(s). Through clinical and molecular investigation of IEIs, we and other groups have been able to greatly advance our understanding of the cell biology and biochemistry orchestrating the proper functioning of the immune system.

                                                            A key step in understanding PIDs is whole genome sequencing (WGS) of patients’ genomic DNA and state-of-the-art computational analysis. However, given the enormous genetic variability between individuals, such an analysis typically generates a number of potential gene candidates that must then be further investigated to assess their potential biological relevance and functional consequence(s). This is achieved through state of the art in vitro and in vivo laboratory based studies, specifically tailored for the gene of interest and the patient disease and phenotype. This factor demands from our researchers a substantial level of versatility, presenting them with a unique challenge and opportunity to continually adapt, update and enhance their skills. Ultimately, utilizing our worldwide network of collaborators, we aim to find additional patients with similar phenotypes and genotypes.

                                                            Our established and growing patient databases are key for these projects. By virtue of large international networks such as the Care-for-Rare Alliance and the Very-Early-Onset Inflammatory Bowel Disease Consortium we are in the privileged position to reach important milestones and to continuously expand our projects. We have successfully identified a number of novel genes associated with inherited defects of cells of the innate and adaptive immune system, adding to our understanding of these diseases and approaches available for their treatment. Our work now continues to identify new immune pathologies, their underlying genetic and biology, and improvements in the manner in which they are treated.

                                                            Publications:

                                                            Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C (2012) The phenotype of human STK4 deficiency. Blood 119: 3450-3457. PubMed

                                                            Bahrami E, Witzel M, Racek T, Puchalka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Gohring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C (2017) Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations. The Journal of allergy and clinical immunology. PubMed

                                                            Kotlarz D, Ziętara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Puchałka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, Baumann U, Pfister E-D, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, Milner JD, Schwille P, Mundlos S, Klein C (2013) Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. The Journal of experimental medicine 210: 433-443. PubMed

                                                            Schober T, Magg T, Laschinger M, Rohlfs M, Linhares ND, Puchalka J, Weisser T, Fehlner K, Mautner J, Walz C, Hussein K, Jaeger G, Kammer B, Schmid I, Bahia M, Pena SD, Behrends U, Belohradsky BH, Klein C, Hauck F (2017) A human immunodeficiency syndrome caused by mutations in CARMIL2. Nature communications 8: 14209. PubMed

                                                            Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D (2019).Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. PNAS 15;116(3):970-975. Pubmed


                                                            Gene therapy for hematopoietic stem cells

                                                            Gene therapy has emerged as a new paradigm of targeted and personalized treatment severe inborn errors of immunity, including the Wiskott Aldrich Syndrome (WAS). WAS is a complex life-threatening PID characterized by recurrent pyogenic, viral and fungal infections, thrombocytopenia and autoimmunity. It is an X-linked disorder caused by loss of function mutations in the gene encoding the Wiskott-Aldrich syndrome protein (WASP). WASP-deficiency leads to multiple dysfunctions in different subgroups of leukocytes, including defective T and B cell function, disturbed formation of the NK cell immunological synapse and impaired migratory responses in all leukocyte subgroups.

                                                            In 2004, we initiated a hematopoietic stem cell gene therapy trial using a γ-retroviral vector to reconstitute WASP expression. Ten patients with severe WAS were enrolled. 9 out of ten patients showed sustained engraftment and correction of WASP expression in lymphoid and myeloid cells and platelets as well as resolution of immunodeficiency, autoimmunity, and bleeding diathesis. Several years after gene therapy however, patients developed clonal hematopoietic disorders such as myelodysplastic syndromes and acute leukemias as a consequence of insertional mutagenesis. Our study showed hematopoietic stem cell gene therapy for WAS is feasible and effective, but the use of γ-vectors is associated with a substantial risk of leukemogenesis. We now hypothesize that WAS is associated with decreased genomic stability and continue to work on the development of both efficacious and safe techniques for the genetic engineering of HSC, to cure WAS and other primary immunodeficiency diseases. We make use of novel large animal models and CRISPR-Cas9-mediated gene editing to secure physiological gene expression and to minimize unwanted side-effects.

                                                            Publications:

                                                            Boztug K, Dewey RA, Klein C (2006) Development of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome. Curr Opin Mol Ther 8: 390-395. PubMed

                                                            Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Diez IA, Dewey RA, Bohm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kuhlcke K, Blasczyk R, Kondratenko I, Marodi L, Orange JS, von Kalle C, Klein C (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome. The New England journal of medicine 363: 1918-1927. PubMed

                                                            Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Gohring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kuhlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Marodi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C (2014) Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity. Science translational medicine 6: 227ra233. PubMed


                                                            Wendy Adhiambo Aloo

                                                            Technician

                                                            ✉ wendy.aloo@med.uni-muenchen.de

                                                            ☎ 089-4400-57980

                                                            Room: K0.01


                                                            Daniel Bergér

                                                            Doctoral Researcher (PhD track)

                                                            ✉ daniel.berger@med.uni-muenchen.de

                                                            ☎ 089-2180-76861

                                                            Gene Center, LMU, Feodor-Lynen-Straße 25, Room: A.2.65


                                                            Raffaele Conca

                                                            Manager FACS Facility and Technician

                                                            ✉ raffaele.conca@med.uni-muenchen.de

                                                            ☎ 089-4400-74994

                                                            K.024


                                                            Yanxin Fan

                                                            Doctoral Researcher (PhD track)

                                                            ✉ yanxin.fan@med.uni-muenchen.de

                                                            ☎ 089-4400-57980

                                                            Room: K0.01


                                                            Dr. Sebastian Hesse

                                                            Clinician Scientist

                                                            ✉ sebastian.hesse@med.lmu.de

                                                            ☎ 089-4400-57714

                                                            Room: K0.03


                                                            Prof. Dr. Christoph Klein

                                                            Prinicipal Investigator

                                                            ✉  christoph.klein@med.uni-muenchen.de

                                                            ☎ 089-4400-57701

                                                            Room: A3.05


                                                            Chiara Lincetto

                                                            Doctoral Researcher (PhD track)

                                                            ✉ chiara.lincetto@med.uni-muenchen.de

                                                            ☎ 089-2180-76861

                                                            Gene Center, LMU, Feodor-Lynen-Straße 25, Room: A.2.65


                                                            Chaochen Lu

                                                            Doctoral Researcher (PhD track)

                                                            ✉ chaochen.lu@med.uni-muenchen.de

                                                            ☎ 089-2180-76861

                                                            Gene Center, LMU, Feodor-Lynen-Straße 25, Room: A.2.65


                                                            Dr. Christina Nickels

                                                            Scientific Project Manager

                                                            ✉ christina.nickels@med.uni-muenchen.de

                                                            ☎ 089-4400-57977

                                                            Room: K0.07


                                                            Isabel Plonner

                                                            Technician

                                                            ✉ isabel.plonner@med.uni-muenchen.de

                                                            ☎ 089-4400-57780

                                                            Room: KU.10


                                                            Dr. Daniela Plabst

                                                            Scientific Project Manager

                                                            ✉ daniela.plabst@med.uni-muenchen.de

                                                            ☎ 089-4400-57977

                                                            Room: K0.07


                                                            Benedicta zu Putlitz

                                                            Doctoral Researcher (MD)

                                                            ✉ Benedicta.Putlitzvon@med.uni-muenchen.de

                                                            ☎ 089-4400-57985

                                                            Room: K0.01


                                                            Dr. Meino Rohlfs

                                                            NGS Facility Manager and Postdoctoral Researcher

                                                            ✉ meino.rohlfs@med.uni-muenchen.de

                                                            ☎ 089-4400-57780

                                                            Room: KU.10


                                                            Daniel Weiß

                                                            Bioinformatician

                                                            ✉ daniel.weiss@med.uni-muenchen.de

                                                            ☎ 089-4400-57451

                                                            Room: K0.25



                                                            Yingding Wang

                                                            Bioinformatician

                                                            ✉ Yingding.Wang@med.uni-muenchen.de

                                                            ☎ 089-4400-57451

                                                            Room: K0.25



                                                            Susanne Artmeier

                                                            Bioinformatician

                                                            ✉ Susanne.Artmeier@med.uni-muenchen.de

                                                            ☎ 089-4400-57980

                                                            Room: K0.25


                                                            Dr. Kinga Balazs 

                                                            Bioinformatician

                                                            ✉ Kinga.Balazs@med.uni-muenchen.de

                                                            ☎ 089-4400-57451

                                                            Room: K0.25



                                                            Dr. Jongsu Choi

                                                            Postdoctoral Researcher

                                                            ✉ jongsu.choi@med.uni-muenchen.de

                                                            ☎ 089-4400-57974

                                                            Room: K0.13


                                                            Sathya Darmalinggam

                                                            Doctoral Researcher (PhD track)

                                                            Co-advised by Dr. Sarah Kim-Hellmuth

                                                            ✉ sathya.darmalinggam@med.uni-muenchen.de

                                                            ☎ 089-4400-57763


                                                            Dr. med. Stephanie Frenz

                                                            Doctoral Researcher (PhD track)

                                                            ✉ stephanie.frenz@med.uni-muenchen.de

                                                            ☎ 089-4400-57985

                                                            Room: K0.13


                                                            Stefanie Heer

                                                            Scientific Project Manager

                                                            ✉ stefanie.heer@med.uni-muenchen.de

                                                            ☎ 089-4400-57706

                                                            Room: K0.07


                                                            Mehmet Kiziltug

                                                            Doctoral Researcher (Phd track)

                                                            ✉ Mehmet.Kiziltug@med.uni-muenchen.de

                                                            ☎ 089-4400-57974

                                                            Room: K0.13


                                                            Dr. Monika Linder

                                                            Postdoctoral Researcher

                                                            ✉ monika.linder@med.uni-muenchen.de

                                                            ☎ 089-4400-57704

                                                            Room: K0.03


                                                            Julia Schneider

                                                            Physician Scientist

                                                            ✉ Jul.Schneider3@med.uni-muenchen.de

                                                            ☎ 089-4400-57241

                                                            Room: K0.01


                                                            Dr. Daniel Petersheim

                                                            Doctoral Researcher (PhD track)

                                                            ✉ daniel.petersheim@med.uni-muenchen.de

                                                            ☎ 089-4400-57985

                                                            Room: K0.01


                                                            Tobias Prell

                                                            Physician Scientist

                                                            ✉ tobias.prell@med.uni-muenchen.de

                                                            ☎

                                                            Room: K0.25


                                                            Sebastian Sigl

                                                            Doctoral Researcher

                                                            ✉ Sebastian.Sigl@med.uni-muenchen.de

                                                            ☎ 089-4400-57985

                                                            Room: K0.03



                                                            Dr. Regina Steck

                                                            Scientific Project Manager

                                                            ✉ regina.steck@med.uni-muenchen.de

                                                            ☎ 089-4400-57977

                                                            Room: K0.07

                                                            Selected Publications:

                                                            Momtazmanesh S, Rayzan E, Zoghi S, Shahkarami S, Molatefi R, Mohammadzadeh I, Ghaffari J, Mahmoudi H, Dmytrus J, Segarra-Roca A, Somekh I, Witzel M, Hauck F, Boztug K, Klein C, Rezaei N. (2021) Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients. Endocr Metab Immune Disord Drug Targets. 2021 Feb 26.

                                                            Maroufi SF, Shaka Z, Mojtabavi H, Sadeghalvad M, Rayzan E, Sedighi I, Shahkarami S, Najafi M, Rohlfs M, Klein C, Rezaei N. (2021) Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature. Endocr Metab Immune Disord Drug Targets. 2021;21(9):1660-1668.

                                                            Frey L, Ziętara N, Łyszkiewicz M, Marquardt B, Mizoguchi Y, Linder MI, Liu Y, Giesert F, Wurst W, Dahlhoff M, Schneider MR, Wolf E, Somech R, Klein C.(2021) Mammalian VPS45 orchestrates trafficking through the endosomal system. Blood. 2021 Apr 8;137(14):1932-1944

                                                            A. Ziv, L. Werner, L. Konnikova, A. Awad, T. Jeske, M. Hastreiter, V. Mitsialis, T. Stauber, S. Wall, D. Kotlarz, C. Klein, S. B. Snapper, Y. Tzfati, B. Weiss, R. Somech, and D. S. Shouval. (2020) An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency. J.Clin.Immunol. 40(7):1010-1019.

                                                            Yue Li, Christoph Klein, Daniel Kotlarz. (2020) Dysregulation of Cell Death in Human Chronic Inflammation. Cold Spring Harb Perspect Biol. 12(7):a037036.

                                                            Khoshnevisan R, Anderson M, Babcock S, Anderson S, Illig D, Marquardt B, Sherkat R, Schröder K, Moll F, Hollizeck S, Rohlfs M, Walz C, Adibi P, Rezaei A, Andalib A, Koletzko S, Muise AM, Snapper SB, Klein C, Thiagarajah JR, Kotlarz D. (2020) NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency. Inflamm Bowel Dis. 26(8):1166-1176

                                                            Hager P, Mewes HW, Rohlfs M, Klein C, Jeske T. (2020) SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases. PloS Comput Biol. 7;16(2):e1007613.

                                                            Łyszkiewicz M, Ziętara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchałka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Ünal E, Karakukcu M, Patiroğlu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C. (2020)  Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells. Nat.Commun.11(1):1031.

                                                            Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. (2019) CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 134(18):1510-1516.

                                                            Jeske T, Huypens P, Stirm L, Höckele S, Wurmser CM, Böhm A, Weigert C, Staiger H, Klein C, Beckers J, Hastreiter M. (2019) DEUS: an R package for accurate small RNA profiling based on differential expression of unique sequences. Bioinformatics.35(22):4834-4836.

                                                            Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. (2019) Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases. Proc Natl Acad Sci U S A. 15;116(3):970-975.

                                                            Kotlarz, D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C. (2018) Human Transforming Growth Factor Beta-1 Deficiency. Nat Genet. 50(3):344-348.

                                                            Witzel M, Petersheim D, Fan Y, Bahrami E, Racek T, Rohlfs M, Puchałka J, Mertes C, Gagneur J, Ziegenhain C, Enard W, Stray-Pedersen A, Arkwright PD, Abboud MR, Pazhakh V, Lieschke GJ, Krawitz PM, Dahlhoff M, Schneider MR, Wolf E, Horny HP, Schmidt H, Schäffer AA, Klein C. (2017) Chromatin remodelling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet. 49(5):742-7525.

                                                            Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA,  Antonopoulos A, Haslam S, Ziesenitz L, Puchałka J, Diestelhorst J, Appaswamy G,  Lescoeur B,  Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, 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. (2014) JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 46(9):1021-7.

                                                            Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Gohring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kuhlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Marodi L, Glimm H, Schlegelberger B, Schambach A, Albert MH, Schmidt M, von Kalle C, Klein C. (2014) Gene therapy for Wiskott-Aldrich syndrome–long-term efficacy and genotoxicity. Sci Transl Med. 6(227):227ra33

                                                            Vilboux T, Lev A, Malicdan MC, Simon AJ, Jarvinen P, Racek T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, Soudack M, Atawneh OM, Babushkin T, Schiby G, Cullinane A, Avivi C, Polak-Charcon S, Barshack I, Amariglio N, Rechavi G, van der Werff ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. (2013) A congenital neutrophil defect syndrome associated with mutations in VPS45. N Engl J Med. 369(1):54-65.

                                                            Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Diez IA, Dewey RA, Bohm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kuhlcke K, Blasczyk R, Kondratenko I, Marodi L, Orange JS, von Kalle C, Klein C. (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome. N Engl J Med. 363(20):1918-27.

                                                            Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C. (2009) Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 361(21):2033-45.

                                                            Boztug K, Appaswamy G, Ashikov A, Schaffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanne-Chantelot C, Rezaei N, Monkemoller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C. (2009) A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 360(1):32-43.

                                                            Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schaffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C. (2007) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med. 13(1):38-45

                                                            Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B,  Rezaei N, Bohn G, Melin M, Carlsson G, Faeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. (2007) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 39(1):86-92.


                                                            Complete list of published work

                                                            Congratulation to David Illig

                                                            Congratulation to all PhDs in medical research


                                                            On May, 12th 2022 we celebrated David Illig and other PhD graduates of the PhD program "Medical Research" in the Walter-Straub lecture hall.

                                                            Congratulations to all graduates!


                                                            More information (in german):

                                                            https://intranet.klinikum.uni-muenchen.de/Onlinemagazin/de/onlinemagazin/9_ehr_preis/20220520_mmrs-graduation-ceremony/index.html

                                                            Christoph Klein among the most influencial researchers 2021

                                                            Christoph Klein among the most influencial researchers 2021

                                                            In the Immunology field, Professor Christoph Klein (Director of Pediatric Clinic and Polyclinic, Dr. von Hauner Children’s Hospital and Gene Center at LMU) is ranked among the most highly cited researchers 2021. In total 15 researchers from LMU are among the most influencial authors in the ranking by the American Company Clarivate Analytics.



                                                            Gabriella Leung awarded a Humboldt Research Fellowship for Postdoctoral Researchers

                                                            Gabriella Leung awarded a Humboldt Research Fellowship for Postdoctoral Researchers

                                                            Nach ihrem Ph.D. an der University of Calgary arbeitete Gabriella zuletzt als Post-Doc im Labor von Aleixo Muise am renommierten Hospital for Sick Children (SickKids) in Toronto, wo sie sich insbesondere der Erforschung der pathophysiologischen Mechanismen früh-manifester Formen chronisch-entzündlicher Darmerkrankungen widmete.

                                                            Ausgezeichnet mit einem prestigeträchtigen Humboldt Research Fellowship arbeitet Gabriella nun am Dr. von Haunerschen Kinderspital unter der Supervision von Prof. Dr. med. Dr. sci. nat. Christoph Klein an von induzierten pluripotenten Stammzellen abgeleiteten Makrophagenkulturen. Hiervon versprechen sich die Forscher ein besseres Verständnis der häufig sehr schwer und therapieresistent verlaufenden genetischen Formen chronisch-entzündlicher Darmerkrankungen.

                                                            Daniel Petersheim awarded Hector Fellow
                                                            Authorship unknown
                                                            Daniel Petersheim wird bei seinem Phd durch die Hector Fellow Academy unterstützt.

                                                            Daniel Petersheim is awarded a Hector Fellow

                                                            Nach Abschluss seines Medizinstudiums an der Ludwig-Maximilians-Universität München mit Aufenthalten in Boston, New York und Zürich widmet sich Daniel nun einer wissenschaftlichen Arbeit im Rahmen des Ph.D. Programms „Genomic and Molecular Medicine – Personalized Approaches to Childhood Health“ am Dr. von Haunerschen Kinderspital unter der Supervision von Prof. Dr. med. Dr. sci. nat. Christoph Klein.

                                                            Unterstützt wird er hierbei durch ein Stipendium der Hector Fellow Academy. Die junge Wissenschaftsakademie, bestehend aus Professoren der MINT-Fächer, der Medizin sowie der Psychologie vernetzt Forscher über Fächergrenzen hinweg, bietet eine Plattform zum interdisziplinären Austausch und zur gegenseitigen Inspiration und fördert aussichtsreiche Nachwuchswissenschaftler auf vielfältige Weise.

                                                            Im Rahmen dieser Forschungsarbeit sollen mit Hilfe moderner Screening-Verfahren genetische Wechselwirkungen identifiziert werden, die den Effekten krankheitsauslösender Mutationen entgegenwirken. Dadurch soll der Weg hin zur Entwicklung zielgerichteter Therapien im Kontext seltener Erkrankungen geebnet werden. Hierzu kommen sowohl konventionelle Zelllinien als auch von Patienten gewonnene induzierte pluripotente Stammzellen zum Einsatz.

                                                            Christmas Fair at the Dr. v. Haunersches Kinderspital

                                                            Christmas Market at the Dr. v. Haunersches Kinderspital

                                                            PhD students at the Christmas Market

                                                            Klein Lab

                                                            E-mails concerning the research issues via this adress: Research-KleinLab@med.uni-muenchen.de

                                                            Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital,

                                                            Klinikum der Universität München, LMU München

                                                            Postal Address:

                                                            AG Klein

                                                            Lindwurmstr. 4

                                                            80337 Munich

                                                            Germany

                                                            Visiting Address:

                                                            AG Klein

                                                            Research Building K0.07

                                                            Lindwurmstraße 2a

                                                            80337 Munich

                                                            Germany

                                                            Prof. Klein:

                                                            Room: A3.05

                                                            Phone: +49 (0)89 - 4400 - 57701

                                                            Fax: +49 (0)89 - 4400 - 57702

                                                            Email: christoph.klein@med.uni-muenchen.de

                                                            Research at CCRC Hauner

                                                            Contact LMU Klinikum

                                                            Contact CCRC Hauner

                                                            Haunersches

                                                            CCRC Hauner

                                                            Kinderklinik und Kinderpoliklinik

                                                            im Dr. von Haunerschen Kinderspital

                                                            Ludwig Maximilians Universität München

                                                            Lindwurmstr. 4

                                                            80337 Munich, Germany

                                                            ☎ +49-89-4400-57705

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