Unser Ziel ist es, die grundlegenden Prinzipien der Hämatopoese und des Immunsystems im Kontext seltener Erkrankungen des Kindesalters zu verstehen. Ausgehend vom Patienten kommen hierbei neben der Genomsequenzierung verschiedenste in vitro und in vivo Modelle zum Einsatz. Damit möchten wir nicht zuletzt den Weg hin zur Entwicklung zielgerichteter Therapien ebnen.

Frenz-Wiessner S, Fairley SD, Buser M, Goek I, Salewskij K, Jonsson G, Illig D, Zu Putlitz B, Petersheim D, Li Y, Chen PH, Kalauz M, Conca R, Sterr M, Geuder J, Mizoguchi Y, Megens RTA, Linder MI, Kotlarz D, Rudelius M, Penninger JM, Marr C, Klein C. (2024) Generation of complex bone marrow organoids from human induced pluripotent stem cells. Nat Methods. 21(5):868-881.

Danhauser K, Mantoan LDL, Dittmer JM, Leutner S, Endres S, Strniscak K, Pfropfreis J, Bialke M, Stahl D, Frey BA, Gläser SS, Ritter LA, Linhardt F, Maag B, Miebach GDE, Schäfer M, Klein C, Hinske LC. (2024) On-site electronic consent in pediatrics using generic Informed Consent Service (gICS): Creating a specialized setup and collecting consent data. PLOS Digit Health. 3(11):e0000661.

Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, Uhlig HH, Garty BZ, Klein C, Kotlarz D. (2023) Human MD2 deficiency-an inborn error of immunity with pleiotropic features. J Allergy Clin Immunol. 151(3):791-796.e7.

Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Łyszkiewicz M, Ziȩtara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maier-Begandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, Saito MK, Rusha E, Alizadeh Z, Pourpak Z, Kobayashi M, Rezaei N, Unal E, Hauck F, Drukker M, Walzog B, Rappsilber J, Zimmer R, Lieschke GJ, Klein C. (2023) Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes. Blood. 141(6):645-658.

Aminorroaya A, Rayzan E, Shahkarami S, Seyedpour S, Zoghi S, Aryan Z, Somekh I, Rohlfs M, Klein C, Esmaeilzadeh H, Rezaei N. (2023) Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery. Endocr Metab Immune Disord Drug Targets. 23(3):410-415.

Fan Y, Murgia M, Linder MI, Mizoguchi Y, Wang C, Łyszkiewicz M, Ziȩtara N, Liu Y, Frenz S, Sciuccati G, Partida-Gaytan A, Alizadeh Z, Rezaei N, Rehling P, Dennerlein S, Mann M, Klein C. (2022) HAX1-dependent control of mitochondrial proteostasis governs neutrophil granulocyte differentiation. J Clin Invest. 132(9):e153153. 

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.

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.

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Klein Lab

Kinderklinik und Kinderpoliklinik im Dr. von Haunerschen Kinderspital,

Klinikum der Universität München, LMU München

Postadresse: Lindwurmstr. 4

Besuchsadresse: Research Building, Lindwurmstraße 2a

80337 München

Germany

Raum: A3.05

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

Fax: +49 (0)89 - 4400 - 57702

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