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Page 1
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. Schober T, et al. Among authors: klein c. Nat Commun. 2017 Jan 23;8:14209. doi: 10.1038/ncomms14209. Nat Commun. 2017. PMID: 28112205 Free PMC article.
Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes.
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. Witzel M, et al. Among authors: klein c. Nat Genet. 2017 May;49(5):742-752. doi: 10.1038/ng.3833. Epub 2017 Apr 3. Nat Genet. 2017. PMID: 28369036 Free PMC article.
Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. Among authors: klein c. J Clin Immunol. 2018 Aug;38(6):699-710. doi: 10.1007/s10875-018-0533-8. Epub 2018 Jul 20. J Clin Immunol. 2018. PMID: 30030704
Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.
Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenskia-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R. Somekh I, et al. Among authors: klein c. J Clin Immunol. 2018 Aug;38(6):711. doi: 10.1007/s10875-018-0541-8. J Clin Immunol. 2018. PMID: 30099695
Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, Kotlarz D. Lehle AS, et al. Among authors: klein c. Gastroenterology. 2019 Jan;156(1):275-278. doi: 10.1053/j.gastro.2018.09.041. Epub 2018 Sep 26. Gastroenterology. 2019. PMID: 30267714 No abstract available.
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. Li Y, et al. Among authors: klein c. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591564 Free PMC article.
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Grabowski P, Hesse S, Hollizeck S, Rohlfs M, Behrends U, Sherkat R, Tamary H, Ünal E, Somech R, Patıroğlu T, Canzar S, van der Werff Ten Bosch J, Klein C, Rappsilber J. Grabowski P, et al. Among authors: klein c. Mol Cell Proteomics. 2019 Apr;18(4):760-772. doi: 10.1074/mcp.RA118.001141. Epub 2019 Jan 10. Mol Cell Proteomics. 2019. PMID: 30630937 Free PMC article.
Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation.
Tanita K, Hoshino A, Imadome KI, Kamiya T, Inoue K, Okano T, Yeh TW, Yanagimachi M, Shiraishi A, Ishimura M, Schober T, Rohlfs M, Takagi M, Imai K, Takada H, Ohga S, Klein C, Morio T, Kanegane H. Tanita K, et al. Among authors: klein c. Front Pediatr. 2019 Feb 4;7:15. doi: 10.3389/fped.2019.00015. eCollection 2019. Front Pediatr. 2019. PMID: 30778380 Free PMC article.
3,911 results