AlRiyami M, AlSayegh A, ALRawahi M, Balasuburamanian J, Rohlfs M, Peterson L, Klein C, Wali Y. (2026) Between scarcity and surfeit: a familial tale of contradictory iron disorders (β-thalassemia and iron-refractory iron deficiency anemia). Ann Hematol. Online ahead of print.
Vollmuth Y, Soric B, Beer J, Behrends U, Paolini M, Blaschek A, Meyer-Bühn M, Klein C, Hübner J, Dobler G, Schober T. (2026) Pediatric meningoencephalitis in the molecular diagnostic era: epidemiological insights from 1198 suspected cases in Germany between 2016 and 2024. Infection. Online ahead of print.
Debatin KM, Gärtner J, Klein C, Körner A, Mall MA, Muntau AC, van den Berg N. (2025) The German Center for Child and Adolescent Health – A new structure for translational research in pediatrics shaping the health of children today and future generations. Mol Cell Pediatr. 12(1):12.
Li Q, Nambu R, Yaqiang H, Shen X, Argmann C, Guan R, Janssen E, Le Voyer T, Warner N, Yu DD, Guo J, Long K, Ouahed J, Field M, Collen L, Bibus J, Illig D, Rohlfs M, Yu Z, Yang S, Li W, Platt CD, Comella PH, Jordan D, Suárez-Fariñas M, Alosaimi MF, Peters LA, Rosain J, Fieschi C, Puel A, Hsieh EWY, Naito T, Zeng Z, Rodríguez-Belvís MV, Palomino L, Küster P, Li D, Klein C, Snapper SB, Casanova JL, Geha R, Hoffenberg E, McGovern DPB, Schadt E, Kotlarz D, Li D, Muise AM. (2026) BIRC3 (Encoding cIAP2) Variants Result in Dysregulated RIPK1 Signaling Leading to Increased Epithelial Cell Death and Are Associated With Monogenic Crohn's Disease. Gastroenterology. Online ahead of print.
Kendirli PK, Erdem Ş, Kısaarslan AP, Gök V, Kayhan E, Özcan A, Dogan ME, Klein C, Ünal E, Eken A. (2026) A novel ELF4 gene variant disrupts T and NK cell function in a patient with immune thrombocytopenia (ITP). Inflamm Res. 75(1):115.
Göktaş S, Kalaycik Sengul O, Erdem Ş, Eke Güngör H, Babayeva R, Bilgic-Eltan S, Güzel T, Dörterler K, Rohlfs M, Özcan A, Yilmaz E, Karakukcu M, Akar HH, Karakoc-Aydiner E, Özen A, Elmas M, Patiroğlu T, Doğan ME, Baş H, Taylor N, Baris S, Klein C, Eken A, Ünal E. (2026) The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants. J Clin Immunol. 46(1):32.
Gottschlich A, Grünmeier R, Hoffmann GV, Nandi S, Kavaka V, Müller PJ, Jobst J, Oner A, Kaiser R, Gärtig J, Piseddu I, Frenz-Wiessner S, Fairley SD, Schulz H, Igl V, Janert TA, Di Fina L, Mulkers M, Thomas M, Briukhovetska D, Simnica D, Carlini E, Tsiverioti CA, Trefny MP, Lorenzini T, Märkl F, Mesquita P, Brabenec R, Strzalkowski T, Stock S, Michaelides S, Hellmuth J, Thelen M, Reinke S, Klapper W, Gelebart PF, Nicolai L, Marr C, Beltrán E, Megens RTA, Klein C, Baran-Marszak F, Rosenwald A, von Bergwelt-Baildon M, Bröckelmann PJ, Endres S, Kobold S. (2025) Dissection of single-cell landscapes for the development of chimeric antigen receptor T cells in Hodgkin lymphoma. Blood. 145(14):1536-1552.
Itang ECM, Albrecht V, Schebesta AS, Thielert M, Lanz AL, Danhauser K, Jin J, Prell T, Strobel S, Klein C, Mann M, Pangratz-Fuehrer S, Mueller-Reif J. (2025) Ontology-guided clustering enables proteomic analysis of rare pediatric disorders. EMBO Mol Med. 17(7):1842-1867.
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
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
