Klein Lab - Publications
2023 | 2022 | 2021 | 2020 | 2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 2005 | 2004 | 2003 | 2002 | 2001 | 2000 and before
complete list of publications on PubMed
2023
2022
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.
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.
Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168. doi: 10.2174/1871530321666210226143912. PubMed
2021
Mammalian VPS45 orchestrates trafficking through the endosomal system.
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.
Blood. 2021 Apr 8;137(14):1932-1944. doi: 10.1182/blood.2020006871. PubMed
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F.
Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. PubMed
2020
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
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.
Nat Commun. 2020 Apr 20;11(1):1963. doi: 10.1038/s41467-020-15946-x. PubMed
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
Hager P, Mewes HW, Rohlfs M, Klein C, Jeske T.
PLoS Comput Biol. 2020 Feb 7;16(2):e1007613. doi: 10.1371/journal.pcbi.1007613. eCollection 2020 Feb. PubMed
NOX1 Regulates Collective and Planktonic Cell Migration: Insights From Patients With Pediatric-Onset IBD and NOX1 Deficiency.
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.
Inflamm Bowel Dis. 2020 Feb 17. pii: izaa017. doi: 10.1093/ibd/izaa017. PubMed
Dysregulation of Cell Death in Human Chronic Inflammation
Yue Li, Klein C, Kotlarz D.
Cold Spring Harb Perspect Biol. 2020 Jul 1;12(7):a037036. doi: 10.1101/cshperspect.a037036. PubMed
2019
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
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.
Blood. 2019 Oct 31;134(18):1510-1516. doi: 10.1182/blood.2019000644. PubMed
LAMTOR2 (p14) Controls B Cell Differentiation by Orchestrating Endosomal BCR Trafficking.
Łyszkiewicz M, Kotlarz D, Ziȩtara N, Brandes G, Diestelhorst J, Glage S, Hobeika E, Reth M, Huber LA, Krueger A, Klein C.
Front Immunol. 2019 Mar 18;10:497. doi: 10.3389/fimmu.2019.00497. eCollection 2019. PubMed
Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency.
Illig D, Navratil M, Kelečić J, Conca R, Hojsak I, Jadrešin O, Ćorić M, Vuković J, Rohlfs M, Hollizeck S, Bohne J, Klein C, Kotlarz D.
J Clin Immunol. 2019 Feb;39(2):207-215. doi: 10.1007/s10875-019-00606-7. Epub 2019 Mar 21. PubMed
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
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.
Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. PubMed
2018
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz D, Marquardt B, Barøy T, Lee WS, Konnikova L, Hollizeck S, Magg T, Lehle AS, Walz C, Borggraefe I, Hauck F, Bufler P, Conca R, Wall SM, Schumacher EM, Misceo D, Frengen E, Bentsen BS, Uhlig HH, Hopfner KP, Muise AM, Snapper SB, Strømme P, Klein C.
Nat Genet. 2018 Mar;50(3):344-348. doi: 10.1038/s41588-018-0063-6. Epub 2018 Feb 26. PubMed
2017
Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention.
Kotlarz D, Egritas Gurkan O, Haskologlu ZS, Ekinci O, Aksu Unlusoy A, Gürcan Kaya N, Puchalka J, Klein C, Dalgic B.
World J Gastrointest Pathophysiol. 2017 May 15;8(2):87-92. doi: 10.4291/wjgp.v8.i2.87. PubMed
A human immunodeficiency syndrome caused by mutations in CARMIL2.
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.
Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209. PubMed
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
Witzel M, Petersheim D, Klein C, 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, et al.
Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3. PubMed
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
Aglaguel A, Abdelghaffar H, Ailal F, Habti N, Hesse S, Kohistani N, Klein C, Bousfiha AA.
J Clin Immunol. 2017 May;37(4):357-362. doi: 10.1007/s10875-017-0385-7. Epub 2017 Mar 28. PubMed
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.
Aghamohammadi A, Abolhassani H, Puchalka J, Greif-Kohistani N, Zoghi S, Klein C, Rezaei N.
J Clin Immunol. 2017 Apr;37(3):282-286. doi: 10.1007/s10875-017-0387-5. Epub 2017 Mar 28. No abstract available. PubMed
Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.
Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C.
J Allergy Clin Immunol. 2017 Jan 21. pii: S0091-6749(17)30050-7. doi: 10.1016/j.jaci.2016.10.053. PubMed
2016
Children with rare diseases of neutrophil granulocytes: From therapeutic orphans to pioneers of individualized medicine
Klein C.
Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):33-37. PubMed
Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).
Klein C.
J Clin Immunol. 2017 Feb;37(2):117-122. doi: 10.1007/s10875-016-0358-2. Epub 2016 Dec 10. Review. PubMed
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Klein C, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, et al.
Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073https://www.ncbi.nlm.nih.gov/pnas.1618300114. Epub 2016 Dec 7. PubMed
Children with rare diseases of neutrophil granulocytes: from therapeutic orphans to pioneers of individualized medicine.
Klein C.
Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):33-37. Review. PubMed
MST1-dependent vesicle trafficking regulates neutrophil transmigration through the vascular basement membrane.
Kurz AR, Pruenster M, Rohwedder I, Ramadass M, Schäfer K, Harrison U, Gouveia G, Nussbaum C, Immler R, Wiessner JR, Margraf A, Lim DS, Walzog B, Dietzel S, Moser M, Klein C, Vestweber D, Haas R, Catz SD, Sperandio M.
J Clin Invest. 2016 Nov 1;126(11):4125-4139. doi: 10.1172/JCI87043. Epub 2016 Oct 4. PubMed
Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency.
Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, Redhu NS, Frei SM, Field M, Doty AL, Goldsmith JD, Bhan AK, Loizides A, Weiss B, Yerushalmi B, Yanagi T, Lui X, Quintana FJ, Muise AM, Klein C, Horwitz BH, Glover SC, et al.
Gastroenterology. 2016 Dec;151(6):1100-1104. doi: 10.1053/j.gastro.2016.08.055. Epub 2016 Sep 28. PubMed
CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.
Patiroglu T, Klein C, Gungor HE, Ozdemir MA, Witzel M, Karakukcu M, Sawalle-Belohradsky J, Conca R, Unal E.
Genet Couns. 2016;27(1):9-24. PubMed
Classical Hodgkin lymphoma-type PTLD after solid organ transplantation in children: a report on 17 patients treated according to subsequent GPOH-HD treatment schedules.
Kampers J, Orjuela-Grimm M, Schober T, Schulz TF, Stiefel M, Klein C, Körholz D, Mauz-Körholz C, Kreipe H, Beier R, Maecker-Kolhoff B.
Leuk Lymphoma. 2017 Mar;58(3):633-638. doi: 10.1080/10428194.2016.1205742. Epub 2016 Aug 11. PubMed
Granulocyte-Macrophage Colony Stimulating Factor Bioactivity and Mucosal Homeostasis in Crohn's Disease: A Role for Genetic Variation.
Denson LA, Klein C.
Gastroenterology. 2016 Oct;151(4):593-6. doi: 10.1053/j.gastro.2016.08.042. Epub 2016 Aug 30. No abstract available. PubMed
Large B-Cell Lymphoma in an Adolescent Patient With Interleukin-10 Receptor Deficiency and History of Infantile Inflammatory Bowel Disease.
Shouval DS, Ebens CL, Murchie R, McCann K, Rabah R, Klein C, Muise AM, Snapper SB.
J Pediatr Gastroenterol Nutr. 2016 Jul;63(1):e15-7. doi: 10.1097/MPG.0000000000000532. No abstract available. PubMed
Basic diagnostics for pediatric outpatients with susceptibility to infections and immundysregulation.
Rack-Hoch A, Notheis G, Klein C, Hauck F.
MMW Fortschr Med. 2016 May 25;158(10):49-52. doi: 10.1007/s15006-016-8280-3. Review. German. No abstract available. PubMed
Pediatrics for the general practitioner.
Klein C.
MMW Fortschr Med. 2016 May 25;158(10):48. doi: 10.1007/s15006-016-8279-9. Review. German. No abstract available. PubMed
A novel Rab27a mutation binds melanophilin, but not Munc13-4, causing immunodeficiency without albinism.
Netter P, Chan SK, Banerjee PP, Monaco-Shawver L, Noroski LM, Hanson IC, Forbes LR, Mace EM, Chinen J, Gaspar HB, Sleiman P, Hakonarson H, Klein C, Ehlayel MS, Orange JS.
J Allergy Clin Immunol. 2016 Aug;138(2):599-601.e3. doi: 10.1016/j.jaci.2015.12.1337. Epub 2016 Mar 23. No abstract available. PubMed
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Klein C, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, et al.
Gastroenterology. 2016 May;150(5):1196-207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4. PubMed
2015
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB.
J Clin Immunol. 2015 Nov;35(8):696-726. doi: 10.1007/s10875-015-0201-1. Epub 2015 Oct 19. Review. PubMed
Diagnostic and Treatment Options for Severe IBD in Female X-CGD Carriers with Non-random X-inactivation.
Hauck F, Koletzko S, Walz C, von Bernuth H, Klenk A, Schmid I, Belohradsky BH, Klein C, Bufler P, Albert MH.
J Crohns Colitis. 2016 Jan;10(1):112-5. doi: 10.1093/ecco-jcc/jjv186. Epub 2015 Oct 13. PubMed
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan KE, Tang ML.
J Clin Immunol. 2015 Nov;35(8):727-38. doi: 10.1007/s10875-015-0198-5. Epub 2015 Oct 7. Review. PubMed
Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut I, Bordon V, Dhooge C, Delbeke P, Vanlander AV, Simon A, Klein C, Kooy RF, Somech R, Callewaert B.
Am J Med Genet A. 2015 Dec;167A(12):3214-8. doi: 10.1002/ajmg.a.37367. Epub 2015 Sep 11. PubMed
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.
Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, et al.
J Exp Med. 2015 Sep 21;212(10):1641-62. doi: 10.1084/jem.20140280. Epub 2015 Aug 24. PubMed
GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders.
Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, Thiel A, Schams A, Lange J, Krenke K, Wesselak T, Schön C, Kappler M, Blum H, Krebs S, Jung A, Kröner C, Klein C, Campo I, Luisetti M, Bonella F.
BMC Pulm Med. 2015 Aug 12;15:87. doi: 10.1186/s12890-015-0083-2. PubMed
Very early-onset inflammatory bowel disease: gaining insight through focused discovery.
Moran CJ, Klein C, Muise AM, Snapper SB.
Inflamm Bowel Dis. 2015 May;21(5):1166-75. doi: 10.1097/MIB.0000000000000329. Review. PubMed
Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3.
Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, McCann KJ, Horwitz BH, Mathis D, Milford EL, Notarangelo LD, Roncarolo MG, Fiebiger E, Marasco WA, Bacchetta R, Quintana FJ, Pai SY, Klein C, et al.
Blood. 2015 Jun 18;125(25):3886-95. doi: 10.1182/blood-2014-12-618363. Epub 2015 Apr 1. PubMed
Phage-mediated dispersal of biofilm and distribution of bacterial virulence genes is induced by quorum sensing.
Rossmann FS, Racek T, Wobser D, Puchalka J, Rabener EM, Reiger M, Hendrickx AP, Diederich AK, Jung K, Klein C, Huebner J.
PLoS Pathog. 2015 Feb 23;11(2):e1004653. doi: 10.1371/journal.ppat.1004653. eCollection 2015 Feb. PubMed
2014
The Care-for-Rare Center at the Dr. von Haunerschen Pediatric Hospital in Munich. Help for children with rare illnesses.
Klein C.
MMW Fortschr Med. 2014 Dec 15;156(21-22):40. German. No abstract available. PubMed
Human IL-21 and IL-21R deficiencies: two novel entities of primary immunodeficiency.
Kotlarz D, Ziętara N, Milner JD, Klein C.
Curr Opin Pediatr. 2014 Dec;26(6):704-12. doi: 10.1097/MOP.0000000000000160. Review. PubMed
CD30 in pediatric post-transplant lymphoproliferative disease after solid organ transplant: characterization of a new therapeutic target.
Schober T, Framke T, Großhennig A, Klein C, Kreipe H, Maecker-Kolhoff B.
Leuk Lymphoma. 2015 Mar;56(3):832-3. doi: 10.3109/10428194.2014.941837. Epub 2014 Nov 3. No abstract available. PubMed
Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.
Wirnsberger G, Zwolanek F, Stadlmann J, Tortola L, Liu SW, Perlot T, Järvinen P, Dürnberger G, Kozieradzki I, Sarao R, De Martino A, Boztug K, Mechtler K, Kuchler K, Klein C, Elling U, Penninger JM.
Nat Genet. 2014 Sep;46(9):1028-33. doi: 10.1038/ng.3070. Epub 2014 Aug 17. PubMed
JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.
Boztug K, 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, Klein C, Welte K, et al.
Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17. PubMed
The diagnostic approach to monogenic very early onset inflammatory bowel disease.
Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson DC, Travis SP, Turner D, Klein C, Snapper SB, Muise AM; COLORS in IBD Study Group and NEOPICS.
Gastroenterology. 2014 Nov;147(5):990-1007.e3. doi: 10.1053/j.gastro.2014.07.023. Epub 2014 Jul 21. Review. PubMed
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Franco JL, Gaspar HB, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Picard C, Puck JM, Sullivan K, Tang ML.
Front Immunol. 2014 Apr 22;5:162. doi: 10.3389/fimmu.2014.00162. eCollection 2014. Erratum in: Front Immunol. 2014;5:460. PubMed
Interleukin-10 receptor signaling in innate immune cells regulates mucosal immune tolerance and anti-inflammatory macrophage function.
Shouval DS, Biswas A, Goettel JA, McCann K, Conaway E, Redhu NS, Mascanfroni ID, Al Adham Z, Lavoie S, Ibourk M, Nguyen DD, Samsom JN, Escher JC, Somech R, Weiss B, Beier R, Conklin LS, Ebens CL, Santos FG, Ferreira AR, Sherlock M, Bhan AK, Klein C et al.
Immunity. 2014 May 15;40(5):706-19. doi: 10.1016/j.immuni.2014.03.011. Epub 2014 May 1. PubMed
Inherited biallelic CSF3R mutations in severe congenital neutropenia.
Triot A, Järvinen PM, Arostegui JI, Murugan D, Kohistani N, Dapena Díaz JL, Racek T, Puchałka J, Gertz EM, Schäffer AA, Kotlarz D, Pfeifer D, Díaz de Heredia Rubio C, Ozdemir MA, Patiroglu T, Karakukcu M, Sí¡nchez de Toledo Codina J, Yagüe J, Touw IP, Unal E, Klein C.
Blood. 2014 Jun 12;123(24):3811-7. doi: 10.1182/blood-2013-11-535419. Epub 2014 Apr 21. PubMed
Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling.
Heymann MC, Winkler S, Luksch H, Flecks S, Franke M, Ruß S, Ozen S, Yilmaz E, Klein C, Kallinich T, Lindemann D, Brenner S, Ganser G, Roesler J, Rösen-Wolff A, Hofmann SR.
J Immunol. 2014 May 1;192(9):4379-85. doi: 10.4049/jimmunol.1203524. Epub 2014 Apr 4. PubMed
Gene therapy for Wiskott-Aldrich syndrome--long-term efficacy and genotoxicity.
Braun CJ, Boztug K, Paruzynski A, Witzel M, Schwarzer A, Rothe M, Modlich U, Beier R, Göhring G, Steinemann D, Fronza R, Ball CR, Haemmerle R, Naundorf S, Kühlcke K, Rose M, Fraser C, Mathias L, Ferrari R, Abboud MR, Al-Herz W, Kondratenko I, Klein C, et al.
Sci Transl Med. 2014 Mar 12;6(227):227ra33. doi: 10.1126/scitranslmed.3007280. PubMed
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
Murugan D, Albert MH, Langemeier J, Bohne J, Puchalka J, Järvinen PM, Hauck F, Klenk AK, Prell C, Schatz S, Diestelhorst J, Sciskala B, Kohistani N, Belohradsky BH, Müller S, Kirchner T, Walter MR, Bufler P, Muise AM, Snapper SB, Koletzko S, Klein C, et al.
J Clin Immunol. 2014 Apr;34(3):331-9. doi: 10.1007/s10875-014-9992-8. Epub 2014 Feb 12. PubMed
Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans.
Shouval DS, Ouahed J, Biswas A, Goettel JA, Horwitz BH, Klein C, Muise AM, Snapper SB.
Adv Immunol. 2014;122:177-210. doi: 10.1016/B978-0-12-800267-4.00005-5. Review. PubMed
Modified lentiviral LTRs allow Flp recombinase-mediated cassette exchange and in vivo tracing of "factor-free" induced pluripotent stem cells.
Kuehle J, Turan S, Cantz T, Hoffmann D, Suerth JD, Maetzig T, Zychlinski D, Klein C, Steinemann D, Baum C, Bode J, Schambach A.
Mol Ther. 2014 May;22(5):919-28. doi: 10.1038/mt.2014.4. Epub 2014 Jan 17. PubMed
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Klein C, Kotlarz D, et al.
Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11. PubMed
Myeloperoxidase deficiency: the secret under the flag of unstained cell.
Patıroğlu T, Eke Güngör H, Belohradsky JS, Unal E, Klein C.
Turk J Haematol. 2013 Jun;30(2):232-3. doi: 10.4274/Tjh.2012.0012. Epub 2013 Jun 5. No abstract available. PubMed
Gene therapy for Wiskott-Aldrich Syndrome-Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis.
Braun CJ, Witzel M, Paruzynski A, Boztug K, von Kalle C, Schmidt M, Klein C.
Rare Dis. 2014 Oct 30;2(1):e947749. doi: 10.4161/21675511.2014.947749. eCollection 2014. PubMed
2013
Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.
Deenick EK, Avery DT, Chan A, Berglund LJ, Ives ML, Moens L, Stoddard JL, Bustamante J, Boisson-Dupuis S, Tsumura M, Kobayashi M, Arkwright PD, Averbuch D, Engelhard D, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Klein C, et al.
J Exp Med. 2013 Nov 18;210(12):2739-53. doi: 10.1084/jem.20130323. Epub 2013 Nov 11. PubMed
Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes.
Hauck F, Klein C.
Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):596-606. doi: 10.1097/ACI.0000000000000014. Review. PubMed
Pilot Project of a Pediatric Antibiotic Stewardship Initiative at the Hauner Children's Hospital.
Huebner J, Rack-Hoch AL, Pecar A, Schmid I, Klein C, Borde JP.
Klin Padiatr. 2013 Jul;225(4):223-9. doi: 10.1055/s-0033-1349063. Epub 2013 Jul 12. PubMed
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, Masliah-Planchon J, Billot K, Canioni D, Frange P, Radford-Weiss I, Asnafi V, Murugan D, Bole C, Nitschke P, Goulet O, Klein C, Casanova JL, Blanche S, Picard C, Hermine O, Rieux-Laucat F, Brousse N, et al.
Blood. 2013 Nov 28;122(23):3713-22. doi: 10.1182/blood-2013-06-508267. Epub 2013 Oct 2. PubMed
Novel spontaneous deletion of artemis exons 10 and 11 in mice leads to T- and B-cell deficiency.
Barthels C, Puchałka J, Racek T, Klein C, Brocker T.
PLoS One. 2013 Sep 17;8(9):e74838. doi: 10.1371/journal.pone.0074838. eCollection 2013. PubMed
High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.
Hennig C, Ilginus C, Boztug K, Skokowa J, Marodi L, Szaflarska A, Sass M, Pignata C, Kilic SS, Caragol I, Baumann U, Klein C, Welte K, Hansen G.
J Allergy Clin Immunol. 2014 Jan;133(1):172-80.e1-10. doi: 10.1016/j.jaci.2013.06.047. Epub 2013 Sep 5. Erratum in: J Allergy Clin Immunol. 2014 Apr;133(4):1232. PubMed
The German national registry for primary immunodeficiencies (PID).
Gathmann B, Goldacker S, Klima M, Belohradsky BH, Notheis G, Ehl S, Ritterbusch H, Baumann U, Meyer-Bahlburg A, Witte T, Schmidt R, Borte M, Borte S, Linde R, Schubert R, Bienemann K, Laws HJ, Dueckers G, Roesler J, Rothoeft T, Krüger R, Scharbatke EC, Masjosthusmann K, Wasmuth JC, Moser O, Kaiser P, Groß-Wieltsch U, Classen CF, Horneff G, Reiser V, Binder N, El-Helou SM, Klein C, Grimbacher B, Kindle G.
Clin Exp Immunol. 2013 Aug;173(2):372-80. doi: 10.1111/cei.12105. PubMed
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T, Lev A, Malicdan MC, Simon AJ, Järvinen 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, Klein C, Atawneh OM, Babushkin T, Schiby G, Cullinane A, et al.
N Engl J Med. 2013 Jul 4;369(1):54-65. doi: 10.1056/NEJMoa1301296. Epub 2013 Jun 5. PubMed
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome.
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, Klein C, Baumann U, Pfister ED, Hanson EP, Schambach A, Jacobs R, Kreipe H, Moir S, et al.
J Exp Med. 2013 Mar 11;210(3):433-43. doi: 10.1084/jem.20111229. Epub 2013 Feb 25. PubMed
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, et al.
Blood. 2013 Apr 11;121(15):2943-51. doi: 10.1182/blood-2012-10-463166. Epub 2013 Feb 12. PubMed
2012
Preface. Neutropenia.
Klein C.
Hematol Oncol Clin North Am. 2013 Feb;27(1):xi-xii. doi: 10.1016/j.hoc.2012.11.005. Epub 2012 Nov 27. No abstract available. PubMed
Animal models of human granulocyte diseases.
Schäffer AA, Klein C.
Hematol Oncol Clin North Am. 2013 Feb;27(1):129-48, ix. doi: 10.1016/j.hoc.2012.10.005. Epub 2012 Oct 31. Review. PubMed
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.
Boztug K, Klein C.
Hematol Oncol Clin North Am. 2013 Feb;27(1):43-60, vii. doi: 10.1016/j.hoc.2012.11.004. Epub 2012 Nov 27. Review. PubMed
Risk factors and prognosis in T-cell posttransplantation lymphoproliferative diseases: reevaluation of 163 cases.
Tiede C, Maecker-Kolhoff B, Klein C, Kreipe H, Hussein K.
Transplantation. 2013 Feb 15;95(3):479-88. doi: 10.1097/TP.0b013e3182762e07. Review. PubMed
EBV-specific T-cell immunity in pediatric solid organ graft recipients with posttransplantation lymphoproliferative disease.
Wilsdorf N, Eiz-Vesper B, Henke-Gendo C, Diestelhorst J, Oschlies I, Hussein K, Pape L, Baumann U, Tönshoff B, Pohl M, Höcker B, Wingen AM, Klapper W, Kreipe H, Schulz TF, Klein C, Maecker-Kolhoff B.
Transplantation. 2013 Jan 15;95(1):247-55. doi: 10.1097/TP.0b013e318279968d. PubMed
Characteristics of early and late PTLD development in pediatric solid organ transplant recipients.
Schober T, Framke T, Kreipe H, Schulz TF, Großhennig A, Hussein K, Baumann U, Pape L, Schubert S, Wingen AM, Jack T, Koch A, Klein C, Maecker-Kolhoff B.
Transplantation. 2013 Jan 15;95(1):240-6. doi: 10.1097/TP.0b013e318277e344. PubMed
Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
Bégin P, Patey N, Mueller P, Rasquin A, Sirard A, Klein C, Haddad E, Drouin É, Le Deist F.
J Clin Immunol. 2013 Apr;33(3):520-5. doi: 10.1007/s10875-012-9833-6. Epub 2012 Nov 20. PubMed
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. Engelhardt KR, Shah N, Faizura-Yeop I, Kocacik Uygun DF, Frede N, Muise AM, Shteyer E, Filiz S, Chee R, Elawad M, Hartmann B, Arkwright PD, Dvorak C, Klein C, Puck JM, Grimbacher B, Glocker EO.
J Allergy Clin Immunol. 2013 Mar;131(3):825-30. doi: 10.1016/j.jaci.2012.09.025. Epub 2012 Nov 14. PubMed
Human leukocyte antigen distribution in German Caucasians with advanced Ewing's sarcoma.
Thiel U, Wolf P, Wawer A, Blaeschke F, Grunewald TG, von Lüttichau IT, Klingebiel T, Bader P, Borkhardt A, Laws HJ, Handgretinger R, Lang P, Schlegel PG, Eyrich M, Gruhn B, Ehninger G, Koscielniak E, Klein C, Sykora KW, Holler E, Mauz-Körholz C, Woessmann W, Richter GH, Schmidt AH, Peters C, Dirksen U, Jürgens H, Bregni M, Burdach S.
Klin Padiatr. 2012 Oct;224(6):353-8. doi: 10.1055/s-0032-1321730. Epub 2012 Jul 20. PubMed
A complex immunodeficiency is based on U1 snRNP-mediated poly(A) site suppression.
Langemeier J, Schrom EM, Rabner A, Radtke M, Zychlinski D, Saborowski A, Bohn G, Mandel-Gutfreund Y, Bodem J, Klein C, Bohne J.
EMBO J. 2012 Oct 17;31(20):4035-44. doi: 10.1038/emboj.2012.252. Epub 2012 Sep 11. PubMed
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.
Wali Y, Beshlawi I, Fawaz N, Alkhayat A, Zalabany M, Elshinawy M, Al-Kindi S, Al-Rawas AH, Klein C.
Eur J Haematol. 2012 Sep;89(3):245-9. doi: 10.1111/j.1600-0609.2012.01827.x. PubMed
Fever in infants: harmless or dangerous? How to find out.
Rack A, Notheis G, Klein C.
MMW Fortschr Med. 2012 Mar 8;154(4):55-8; quiz 59. Review. German. No abstract available. PubMed
IL-10R polymorphisms are associated with very-early-onset ulcerative colitis.
Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, Langer JC, Cutz E, Benseler SM, Roifman CM, Silverberg MS, Griffiths AM, Snapper SB, Muise AM.
Inflamm Bowel Dis. 2013 Jan;19(1):115-23. doi: 10.1002/ibd.22974. PubMed
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Kotlarz D, Beier R, Murugan D, Diestelhorst J, Jensen O, Boztug K, Pfeifer D, Kreipe H, Pfister ED, Baumann U, Puchalka J, Bohne J, Egritas O, Dalgic B, Kolho KL, Sauerbrey A, Buderus S, Güngör T, Enninger A, Koda YK, Guariso G, Klein C, Weiss B, et al.
Gastroenterology. 2012 Aug;143(2):347-55. doi: 10.1053/j.gastro.2012.04.045. Epub 2012 Apr 28. PubMed
The phenotype of human STK4 deficiency.
Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, Engelhardt KR, Rezaei N, Grimbacher B, Lohrmann S, Sherkat R, Klein C.
Blood. 2012 Apr 12;119(15):3450-7. doi: 10.1182/blood-2011-09-378158. Epub 2012 Jan 31. PubMed
2011
Transplant-associated lymphoproliferation.
Hussein K, Maecker-Kolhoff B., Klein C, Kreipe H.
Pathologe. 2011 Mar;32(2):152-8. doi: 10.1007/s00292-010-1407-x PubMed
Induced transgene expression for the treatment of solid tumors by hematopoietic stem cell-based gene therapy.
Noyan F, Díez IA, Hapke M, Klein C, Dewey RA.
Cancer Gene Ther. 2012 May;19(5):352-7. doi: 10.1038/cgt.2012.8. Epub 2012 Mar 9. PubMed
IL-10 and IL-10 receptor defects in humans.
Glocker EO, Kotlarz D, Klein C, Shah N, Grimbacher B.
Ann N Y Acad Sci. 2011 Dec;1246:102-7. doi: 10.1111/j.1749-6632.2011.06339.x. Review. PubMed
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update.
de Vries E, Alvarez Cardona A, Abdul Latiff AH, Badolato R, Brodszki N, Cant AJ, Carbone J, Casper JT, Čižnár P, Cochino AV, Derfalvi B, Driessen GJ, Elfeky R, El-Ghoneimy D, Espanol T, Etzioni A, Gambineri E, Gilmour K, Gonzalez-Granado LI, Haverkamp MH, Helminen M, Hönig H, Kanariou MG, Kirschfink M, Klein C, Kuijpers TW, Kutukculer N, Martire B, Meyts I, Niehues T, Pignata C, Reda SM, Renner ED, Rezaei N, Rizzi M, Sampalo Lainz MA, Sargur RB, Sediva A, Seidel MG, Seneviratne SL, Soler-Palacín P, Tommasini A, Warnatz K.
Clin Exp Immunol. 2012 Jan;167(1):108-19. doi: 10.1111/j.1365-2249.2011.04461.x. PubMed
Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.
Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kühl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lücke T, Sykora KW.
Bone Marrow Transplant. 2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9. PubMed
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K, Rosenberg PS, Dorda M, Banka S, Moulton T, Curtin J, Rezaei N, Corns J, Innis JW, Avci Z, Tran HC, Pellier I, Pierani P, Klein C, Fruge R, Parvaneh N, Mamishi S, Mody R, Darbyshire P, Motwani J, Murray J, Buchanan GR, Newman WG, et al.
J Pediatr. 2012 Apr;160(4):679-683.e2. doi: 10.1016/j.jpeds.2011.09.019. Epub 2011 Nov 1. PubMed
Development of novel efficient SIN vectors with improved safety features for Wiskott-Aldrich syndrome stem cell based gene therapy.
Avedillo Díez I, Zychlinski D, Coci EG, Galla M, Modlich U, Dewey RA, Schwarzer A, Maetzig T, Mpofu N, Jaeckel E, Boztug K, Baum C, Klein C, Schambach A.
Mol Pharm. 2011 Oct 3;8(5):1525-37. doi: 10.1021/mp200132u. Epub 2011 Aug 31. PubMed
Defective IL10 signaling defining a subgroup of patients with inflammatory bowel disease.
Begue B, Verdier J, Rieux-Laucat F, Goulet O, Morali A, Canioni D, Hugot JP, Daussy C, Verkarre V, Pigneur B, Fischer A, Klein C, Cerf-Bensussan N, Ruemmele FM.
Am J Gastroenterol. 2011 Aug;106(8):1544-55. doi: 10.1038/ajg.2011.112. Epub 2011 Apr 26. PubMed
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, McCartney S, Furman M, Hall G, Bloom SL, Haslam SM, Morris HR, Boztug K, Klein C, Winchester B, Pick E, Linch DC, Gale RE, Smith AM, Dell A, Segal AW.
Glycobiology. 2011 Jul;21(7):914-24. doi: 10.1093/glycob/cwr023. Epub 2011 Mar 8. PubMed
The role of laparoscopic techniques in children with suspected post-transplantation lymphoproliferative disorders.
Metzelder ML, Schober T, Grigull L, Klein C, Kuebler JF, Ure BM, Maecker-Kolhoff B.
J Laparoendosc Adv Surg Tech A. 2011 Oct;21(8):767-70. doi: 10.1089/lap.2010.0175. Epub 2011 Feb 2. PubMed
A case of syndromic neutropenia and mutation in G6PC3.
Gatti S, Boztug K, Pedini A, Pasqualini C, Albano V, Klein C, Pierani P.
J Pediatr Hematol Oncol. 2011 Mar;33(2):138-40. doi: 10.1097/MPH.0b013e3181f46bf4. PubMed
Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes.
Klein C.
Annu Rev Immunol. 2011;29:399-413. doi: 10.1146/annurev-immunol-030409-101259. Review. PubMed
Genetic etiologies of severe congenital neutropenia.
Boztug K, Klein C.
Curr Opin Pediatr. 2011 Feb;23(1):21-6. doi: 10.1097/MOP.0b013e32834262f8. Review. PubMed
2010
HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.
Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J, Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C.
Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748. PubMed
Stem-cell gene therapy for the Wiskott-Aldrich syndrome.
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.
N Engl J Med. 2010 Nov 11;363(20):1918-27. doi: 10.1056/NEJMoa1003548. PubMed
PD-L1 blockade effectively restores strong graft-versus-leukemia effects without graft-versus-host disease after delayed adoptive transfer of T-cell receptor gene-engineered allogeneic CD8+ T cells.
Koestner W, Hapke M, Herbst J, Klein C, Welte K, Fruehauf J, Flatley A, Vignali DA, Hardtke-Wolenski M, Jaeckel E, Blazar BR, Sauer MG.
Blood. 2011 Jan 20;117(3):1030-41. doi: 10.1182/blood-2010-04-283119. Epub 2010 Nov 9. PubMed
Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, et al.
Nat Genet. 2010 Sep;42(9):794-800. doi: 10.1038/ng.641. Epub 2010 Aug 8. PubMed
Pain reduction in children during port-í -cath catheter puncture using local anaesthesia with EMLA™.
Lüllmann B, Leonhardt J, Metzelder M, Hoy L, Gerr H, Linderkamp C, Klein C, Grigull L.
Eur J Pediatr. 2010 Dec;169(12):1465-9. doi: 10.1007/s00431-010-1244-1. Epub 2010 Jul 10. PubMed
Phase II window study on rituximab in newly diagnosed pediatric mature B-cell non-Hodgkin's lymphoma and Burkitt leukemia.
Meinhardt A, Burkhardt B, Zimmermann M, Borkhardt A, Kontny U, Klingebiel T, Berthold F, Janka-Schaub G, Klein C, Kabickova E, Klapper W, Attarbaschi A, Schrappe M, Reiter A; Berlin-Frankfurt-Münster group..
J Clin Oncol. 2010 Jul 1;28(19):3115-21. doi: 10.1200/JCO.2009.26.6791. Epub 2010 Jun 1. PubMed
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
Westerberg LS, Meelu P, Baptista M, Eston MA, Adamovich DA, Cotta-de-Almeida V, Seed B, Rosen MK, Vandenberghe P, Thrasher AJ, Klein C, Alt FW, Snapper SB.
J Exp Med. 2010 Jun 7;207(6):1145-52. doi: 10.1084/jem.20091245. Epub 2010 May 31. PubMed
2009
Congenital neutropenia.
Klein C.
Hematology Am Soc Hematol Educ Program. 2009:344-50. doi: 10.1182/asheducation-2009.1.344. Review. PubMed
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
Engelhardt KR, McGhee S, Winkler S, Sassi A, Woellner C, Lopez-Herrera G, Chen A, Klein C, Kim HS, Lloret MG, Schulze I, Ehl S, Thiel J, Pfeifer D, Veelken H, Niehues T, Siepermann K, Weinspach S, Reisli I, Keles S, Genel F, Kutukculer N, Camcioğlu Y, et al.
J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038. Erratum in: J Allergy Clin Immunol. 2010 Mar;125(3):743. Kutuculer, Necil [corrected to Kutukculer, Necil]. PubMed
Prolonged isolated red blood cell transfusion requirement after allogeneic blood stem cell transplantation: identification of patients at risk.
Dahl D, Hahn A, Koenecke C, Heuft HG, Dammann E, Stadler M, Buchholz S, Krauter J, Eder M, Sykora KW, Klein C, Ganser A, Sauer M.
Transfusion. 2010 Mar;50(3):649-55. doi: 10.1111/j.1537-2995.2009.02461.x. Epub 2009 Nov 19. PubMed
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schäffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hätscher N, Pfeifer D, Sykora KW, Sauer M, Klein C, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, et al.
N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4. PubMed
Neutropenia and primary immunodeficiency diseases.
Rezaei N, Moazzami K, Aghamohammadi A, Klein C.
Int Rev Immunol. 2009;28(5):335-66. doi: 10.1080/08830180902995645. Review. PubMed
Molecular basis of congenital neutropenia.
Klein C.
Haematologica. 2009 Oct;94(10):1333-6. doi: 10.3324/haematol.2009.012260. No abstract available. PubMed
Novel genetic etiologies of severe congenital neutropenia.
Boztug K, Klein C.
Curr Opin Immunol. 2009 Oct;21(5):472-80. doi: 10.1016/j.coi.2009.09.003. Epub 2009 Sep 24. Review. PubMed
Genetic insights into congenital neutropenia.
Klein C, Welte K.
Clin Rev Allergy Immunol. 2010 Feb;38(1):68-74. doi: 10.1007/s12016-009-8130-5. Review. PubMed
MAPKAP kinase MK2 maintains self-renewal capacity of haematopoietic stem cells.
Schwermann J, Rathinam C, Schubert M, Schumacher S, Noyan F, Koseki H, Kotlyarov A, Klein C, Gaestel M.
EMBO J. 2009 May 20;28(10):1392-406. doi: 10.1038/emboj.2009.100. Epub 2009 Apr 16. PubMed
Prevalence, phenotype and inheritance of benign neutropenia in Arabs.
Denic S, Showqi S, Klein C, Takala M, Nagelkerke N, Agarwal MM.
BMC Blood Disord. 2009 Mar 27;9:3. doi: 10.1186/1471-2326-9-3. PubMed
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
Zeidler C, Germeshausen M, Klein C, Welte K.
Br J Haematol. 2009 Feb;144(4):459-67. doi: 10.1111/j.1365-2141.2008.07425.x. Epub 2008 Dec 10. Review. PubMed
A syndrome with congenital neutropenia and mutations in G6PC3.
Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Klein C, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, et al.
N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. Erratum in: N Engl J Med. 2011 Apr 28;364(17):1682. PubMed
2008
Breakdown of T cell tolerance and autoimmunity in primary immunodeficiency--lessons learned from monogenic disorders in mice and men.
Westerberg LS, Klein C, Snapper SB.
Curr Opin Immunol. 2008 Dec;20(6):646-54. doi: 10.1016/j.coi.2008.10.004. Epub 2008 Nov 12. Review. PubMed
Lethal graft-versus-host disease in congenital neutropenia caused by p14 deficiency after allogeneic bone marrow transplantation from an HLA-identical sibling. Bohn G, Hardtke-Wolenski M, Zeidler C, Maecker B, Sauer M, Sykora KW, Grigull L, Welte K, Klein C. Pediatr Blood Cancer. 2008 Sep;51(3):436-8. doi: 10.1002. PubMed
Association of HAX1 deficiency with neurological disorder.
Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C.
Neuropediatrics. 2007 Oct;38(5):261-3. doi: 10.1055/s-2008-1062704. PubMed
Cytotoxic T cells reactive to an immunodominant leukemia-associated antigen can be specifically primed and expanded by combining a specific priming step with nonspecific large-scale expansion.
Ghosh A, Wolenski M, Klein C, Welte K, Blazar BR, Sauer MG.
J Immunother. 2008 Feb-Mar;31(2):121-31. doi: 10.1097/CJI.0b013e31815aaf24. PubMed https://www.ncbi.nlm.nih.gov/pubmed/18481382
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.
Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C.
Clin Genet. 2008 Jul;74(1):68-74. doi: 10.1111/j.1399-0004.2008.01019.x. Epub 2008 May 13. PubMed
Ex vivo priming of CD4 T cells converts immunological tolerance into effective antitumor immunity in a murine model of acute lymphoblastic leukemia.
Hegazy AN, Klein C.
Leukemia. 2008 Nov;22(11):2070-9. doi: 10.1038/leu.2008.193. Epub 2008 Jul 17. PubMed
Congenital neutropenia syndromes.
Boztug K, Welte K, Zeidler C, Klein C.
Immunol Allergy Clin North Am. 2008 May;28(2):259-75, vii-viii. doi: 10.1016/j.iac.2008.01.007. Review. PubMed
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, Ballmaier M, Grimbacher B, Welte K, Klein C.
Blood. 2008 May 15;111(10):4954-7. doi: 10.1182/blood-2007-11-120667. Epub 2008 Mar 12. PubMed
Establishment of immortalized multipotent hematopoietic progenitor cell lines by retroviral-mediated gene transfer of beta-catenin.
Templin C, Kotlarz D, Rathinam C, Rudolph C, Schätzlein S, Ramireddy K, Rudolph KL, Schlegelberger B, Klein C, Drexler H.
Exp Hematol. 2008 Feb;36(2):204-15. doi: 10.1016/j.exphem.2007.10.005. PubMed
2007
Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?
Schäffer AA, Klein C.
Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):481-94. Review. PubMed
CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation.
Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Fuchs A, Hoyer P, Koepf S, Kraemer U, Laube GF, Müller-Wiefel DE, Netz H, Pohl M, Toenshoff B, Wagner HJ, Wallot M, Welte K, Melter M, Offner G, Klein C.
J Clin Oncol. 2007 Nov 1;25(31):4902-8. PubMed
Severe congenital neutropenia: new genes explain an old disease.
Bohn G, Welte K, Klein C.
Curr Opin Rheumatol. 2007 Nov;19(6):644-50. Review. PubMed
Lymphocyte-dependent and Th2 cytokine-associated colitis in mice deficient in Wiskott-Aldrich syndrome protein.
Nguyen DD, Maillard MH, Cotta-de-Almeida V, Mizoguchi E, Klein C, Fuss I, Nagler C, Mizoguchi A, Bhan AK, Snapper SB.
Gastroenterology. 2007 Oct;133(4):1188-97. Epub 2007 Jul 12. PubMed
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden.
Melin M, Entesarian M, Carlsson G, Garwicz D, Klein C, Fadeel B, Nordenskjöld M, Palmblad J, Henter JI, Dahl N.
Biochem Biophys Res Commun. 2007 Feb 16;353(3):571-5. Epub 2006 Dec 20. PubMed
Post transplant lymphoproliferative disease in pediatric solid organ transplant patients: a possible role for [18F]-FDG-PET(/CT) in initial staging and therapy monitoring.
von Falck C, Maecker B, Schirg E, Boerner AR, Knapp WH, Klein C, Galanski M.
Eur J Radiol. 2007 Sep;63(3):427-35. Epub 2007 Feb 9. PubMed
Intrathecal rituximab treatment for pediatric post-transplant lymphoproliferative disorder of the central nervous system.
van de Glind G, de Graaf S, Klein C, Cornelissen M, Maecker B, Loeffen J.
Pediatr Blood Cancer. 2008 Apr;50(4):886-8. PubMed
The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.
Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z, Sherkat R, Aghamohammadi A, Yeganeh M, Mahmoudi M, Mahjoub F, Germeshausen M, Grudzien M, Horwitz MS, Klein C, Farhoudi A.
J Clin Immunol. 2007 Sep;27(5):525-33. Epub 2007 Jun 21. PubMed
Telomere dysfunction induces environmental alterations limiting hematopoietic stem cell function and engraftment.
Ju Z, Jiang H, Jaworski M, Rathinam C, Gompf A, Klein C, Trumpp A, Rudolph KL.
Nat Med. 2007 Jun;13(6):742-7. Epub 2007 May 7. PubMed
Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient.
Boztug K, Baumann U, Ballmaier M, Webster D, Sandrock I, Jacobs R, Lion T, Preuner S, Germeshausen M, Hansen G, Welte K, Klein C.
Haematologica. 2007 Mar;92(3):e43-5. PubMed
Transcriptional repressor Gfi1 integrates cytokine-receptor signals controlling B-cell differentiation.
Rathinam C, Klein C.
PLoS One. 2007 Mar 21;2(3):e306. Retraction in: PLoS One. 2012;7(7). doi: 10.1371/annotation/4f75f09f-a8f0-4cae-b75f-30498d6b44d4. PubMed
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2006
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.
Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C.
Nat Med. 2007 Jan;13(1):38-45. Epub 2006 Dec 31. PubMed
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
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, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K.
Nat Genet. 2007 Jan;39(1):86-92. Epub 2006 Dec 24. PubMed
p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis.
Teis D, Taub N, Kurzbauer R, Hilber D, de Araujo ME, Erlacher M, Offterdinger M, Villunger A, Geley S, Bohn G, Klein C, Hess MW, Huber LA.
J Cell Biol. 2006 Dec 18;175(6):861-8. PubMed
A phase 1/2 trial of arginine butyrate and ganciclovir in patients with Epstein-Barr virus-associated lymphoid malignancies.
Perrine SP, Hermine O, Small T, Suarez F, O'Reilly R, Boulad F, Fingeroth J, Askin M, Levy A, Mentzer SJ, Di Nicola M, Gianni AM, Klein C, Horwitz S, Faller DV.
Blood. 2007 Mar 15;109(6):2571-8. Epub 2006 Nov 21. PubMed
Development of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
Boztug K, Dewey RA, Klein C.
Curr Opin Mol Ther. 2006 Oct;8(5):390-5. Review. PubMed
Retroviral WASP gene transfer into human hematopoietic stem cells reconstitutes the actin cytoskeleton in myeloid progeny cells differentiated in vitro.
Dewey RA, Avedillo Díez I, Ballmaier M, Filipovich A, Greil J, Güngör T, Happel C, Maschan A, Noyan F, Pannicke U, Schwarz K, Snapper S, Welte K, Klein C.
Exp Hematol. 2006 Sep;34(9):1161-9. PubMed
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.
Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schäffer AA, Rathinam C, Köllner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C.
Blood. 2006 Jul 1;108(1):362-9. Epub 2006 Mar 14. PubMed
2005
The transcriptional repressor Gfi1 controls STAT3-dependent dendritic cell development and function.
Rathinam C, Geffers R, Yücel R, Buer J, Welte K, Möröy T, Klein C.
Immunity. 2005 Jun;22(6):717-28. PubMed
WASP deficiency leads to global defects of directed leukocyte migration in vitro and in vivo.
Snapper SB, Meelu P, Nguyen D, Stockton BM, Bozza P, Alt FW, Rosen FS, von Andrian UH, Klein C.
J Leukoc Biol. 2005 Jun;77(6):993-8. Epub 2005 Mar 17. PubMed
Immunosurveillance of childhood ALL – polymorphic Interferon-gamma alleles are associated with age at diagnosis and clinical risk groups. Cloppenborg T, Stanulla M, Zimmermann M, Schrappe M, Welte K, Klein C.
Leukemia. 2005 Jan;19(1):44-8. PubMed
2004
Reevaluation of bone marrow-derived cells as a source for hepatocyte regeneration.
Cantz T, Sharma AD, Jochheim-Richter A, Arseniev L, Klein C, Manns MP, Ott M.
Cell Transplant. 2004;13(6):659-66. PubMed
Gene therapy for inherited disorders of haematopoietic cells.
Klein C, Baum C.
Hematol J. 2004;5(2):103-11. Review. PubMed
2003
Gene therapy for Wiskott-Aldrich syndrome: rescue of T-cell signaling and amelioration of colitis upon transplantation of retrovirally transduced hematopoietic stem cells in mice.
Klein C, Nguyen D, Liu CH, Mizoguchi A, Bhan AK, Miki H, Takenawa T, Rosen FS, Alt FW, Mulligan RC, Snapper SB.
Blood. 2003 Mar 15;101(6):2159-66. Epub 2002 Nov 14. PubMed
2002
Role of syndecan-1 in leukocyte-endothelial interactions in the ocular vasculature.
Götte M, Joussen AM, Klein C, Andre P, Wagner DD, Hinkes MT, Kirchhof B, Adamis AP, Bernfield M.
Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1135-41. PubMed
2001
N-WASP deficiency reveals distinct pathways for cell surface projections and microbial actin-based motility.
Snapper SB, Takeshima F, Anton I, Liu CH, Thomas SM, Nguyen D, Dudley D, Fraser H, Purich D, Lopez-Ilasaca M, Klein C, Davidson L, Bronson R, Mulligan RC, Southwick F, Geha R, Goldberg MB, Rosen FS, Hartwig JH, Alt FW.
Nat Cell Biol. 2001 Oct;3(10):897-904. PubMed
2000 and before
Comparative analysis of genetically modified dendritic cells and cytokine-transduced tumor cells as therapeutic cancer vaccines.
Klein C, Bueler H, Mulligan RC.
J Exp Med. 2000 May 15;191(10):1699-708. PubMed
Expression of Bcl-XL restores survival, but not proliferation and effector differentiation, in CD28-deficient T lymphocytes.
Dahl AM, Klein C, Andres PG, London CA, Lodge MP, Mulligan RC, Abbas AK.
J Exp Med. 2000 Jun 19;191(12):2031-8. PubMed
N-WASP deficiency reveals distinct pathways for cell surface projections and microbial actin-based motility.
Snapper SB, Takeshima F, Anton I, Liu CH, Thomas SM, Nguyen D, Dudley D, Fraser H, Purich D, Lopez-Ilasaca M, Klein C, Davidson L, Bronson R, Mulligan RC, Southwick F, Geha R, Goldberg MB, Rosen FS, Hartwig JH, Alt FW.
Nat Cell Biol. 2001 Oct;3(10):897-904. PubMed
Bone marrow transplantation in MHC class II deficiency – a single center study of 19 cases.
Klein C, Cavazzana-Calvo M, LeDeist F, Jabado N, Benkerrou M, Blanche S, Griscelli C, Fischer A.
Blood. 1995 Jan 15;85(2):580-7. PubMed
Moderate and transient transfusion-associated cutaneous graft-versus-host disease in a child infected by human immunodeficiency virus.
Klein C, Fraitag S, Foulon E, Raffoux C, Bodemer C, Blanche S.
Am J Med. 1996 Oct;101(4):445-6. PubMed
Asymptomatic autoimmune hepatitis associated with anti-LC-1 autoantibodies.
Klein C, Philipp T, Greiner P, Strobelt M, Trautwein C, Brandis M, Manns M.
J Pediatr Gastroenterol Nutr. 1996 Nov;23(4):461-5. PubMed
EBV induced lymphoproliferative syndrome associated with a distinct 69 base pair deletion in the LMP-1 oncogene.
Klein C, Rothenberger S, Niemeyer C, Bachmann E, Odermatt B, Böhm N, Brandis M,
Knecht H Br J Haematol. 1995 Dec;91(4):938-40. PubMed
Partial Albinism with Immunodeficiency (Griscelli Disease).
Klein C, Philippe N, Le Deist F, Durandy A, Fraitag S, Prost C, Fischer A, Griscelli C.
J Pediatr. 1994 Dec;125(6 Pt 1):886-95. PubMed
Major Histocompatibility Complex class II deficiency - clinical manifestation, immunologic features and outcome.
Klein C, Lisowska-Grospierre B, Le Deist F, Fischer A, Griscelli C.
J Pediatr. 1993 Dec;123(6):921-8. PubMed
Magnetresonanztomographie und Magnetresonanzangiographie der Lymphangiomatose.
Vogl TJ, Hammerstingl R, Schnell B, Klein C, Hauser M, Pfluger T, Lissner.
J Rofo. 1992 Oct;157(4):414-9. PubMed
Interferon alpha-2a therapy of consumptive coagulopathy in Kasabach-Merritt syndrome.
Klein C, Hauser M, Hadorn HB.
Eur J Pediatr. 1992 Dec;151(12):919. PubMed