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 Forschungsbericht für das Jahr 2017

Centrum für Chronische Immundefizienz (CCI)

Hugestetter Str. 55
79106 Freiburg
http://www.cci.uniklinik-freiburg.de/


Einträge in der Rubrik "Who is Who"

Wissenschaftliche Publikationen

Originalarbeiten in wissenschaftlichen Fachzeitschriften:
  • Akmatov MK, Koch N, Vital M, Ahrens W, Flesch-Janys D, Fricke J, Gatzemeier A, Greiser H, Gunther K, Illig T, Kaaks R, Krone B, Kuhn A, Linseisen J, Meisinger C, Michels K, Moebus S, Nieters A, Obi N, Schultze A, Six-Merker J, Pieper DH, Pessler F: Determination of nasal and oropharyngeal microbiomes in a multicenter population-based study - findings from Pretest 1 of the German National Cohort. Sci Rep-uk, 2017; 7 (1): 1855-1855. : http://dx.doi.org/10.1038/s41598-017-01212-6
  • Ammann S, Lehmberg K, Zur Stadt U, Janka G, Rensing-Ehl A, Klemann C, Heeg M, Bode S, Fuchs I, Ehl S: Primary and secondary hemophagocytic lymphohistiocytosis have different patterns Eur J Immunol, 2017; 47 (2): 364-373. : http://dx.doi.org/10.1002/eji.201646686
  • Andrlova H, Mastroianni J, Madl J, Kern JS, Melchinger W, Dierbach H, Wernet F, Follo M, Technau-Hafsi K, Has C, Rao Mittapalli V, Idzko M, Herr R, Brummer T, Ungefroren H, Busch H, Boerries M, Narr A, Ihorst G, Vennin C, Schmitt-Graeff A, Minguet S, Timpson P, Duyster J, Meiss F, Romer W, Zeiser R: Biglycan expression in the melanoma microenvironment promotes invasiveness via increased tissue stiffness inducing integrin-beta1 expression. Oncotarget, 2017; 8 (26): 42901-42916. : http://dx.doi.org/10.18632/oncotarget.17160
  • Aushev M, Koller U, Mussolino C, Cathomen T, Reichelt J: Traceless Targeting and Isolation of Gene-Edited Immortalized Keratinocytes from Epidermolysis Bullosa Simplex Patients. Mol Ther Methods Clin Dev, 2017; 6: 112-123. : http://dx.doi.org/10.1016/j.omtm.2017.06.008
  • Bakhtiar S, Gamez-Diaz L, Jarisch A, Soerensen J, Grimbacher B, Belohradsky B, Keller KM, Rietschel C, Klingebiel T, Koletzko S, Albert MH, Bader P: Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency. Front Immunol, 2017; 8: 52-52. : http://dx.doi.org/10.3389/fimmu.2017.00052
  • Birmann BM, Andreotti G, De Roos AJ, Camp NJ, Chiu BCH, Spinelli JJ, Becker N, Benhaim-Luzon V, Bhatti P, Boffetta P, Brennan P, Brown EE, Cocco P, Costas L, Cozen W, de Sanjose S, Foretova L, Giles GG, Maynadie M, Moysich K, Nieters A, Staines A, Tricot G, Weisenburger D, Zhang Y, Baris D, Purdue MP: Young Adult and Usual Adult Body Mass Index and Multiple Myeloma Risk: A Pooled Analysis in the International Multiple Myeloma Consortium (IMMC). Cancer Epidem Biomar, 2017; 26 (6): 876-885. : http://dx.doi.org/10.1158/1055-9965.EPI-16-0762-T
  • Bloss S, Klemann C, Rother AK, Mehmecke S, Schumacher U, Mucke U, Mucke M, Stieber C, Klawonn F, Kortum X, Lechner W, Grigull L: Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. Plos One, 2017; 12 (2): e0172532-e0172532. : http://dx.doi.org/10.1371/journal.pone.0172532
  • Breuer O, Daum H, Cohen-Cymberknoh M, Unger S, Shoseyov D, Stepensky P, Keller B, Warnatz K, Kerem E: Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. Resp Med, 2017; 126: 39-45. : http://dx.doi.org/10.1016/j.rmed.2017.03.018
  • Chen HH, Handel N, Ngeow J, Muller J, Huhn M, Yang HT, Heindl M, Berbers RM, Hegazy AN, Kionke J, Yehia L, Sack U, Blaser F, Rensing-Ehl A, Reifenberger J, Keith J, Travis S, Merkenschlager A, Kiess W, Wittekind C, Walker L, Ehl S, Aretz S, Dustin ML, Eng C, Powrie F, Uhlig HH: Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. J Allergy Clin Immun, 2017; 139 (2): 607-620.e15. : http://dx.doi.org/10.1016/j.jaci.2016.03.059
  • Chiang SCC, Wood SM, Tesi B, Akar HH, Al-Herz W, Ammann S, Belen FB, Caliskan U, Kaya Z, Lehmberg K, Patiroglu T, Tokgoz H, Unuvar A, Introne WJ, Henter JI, Nordenskjold M, Ljunggren HG, Meeths M, Ehl S, Krzewski K, Bryceson YT: Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients. Front Immunol, 2017; 8: 426-426. : http://dx.doi.org/10.3389/fimmu.2017.00426
  • Cornu TI, Mussolino C, Cathomen T: Refining strategies to translate genome editing to the clinic. Nat Med, 2017; 23 (4): 415-423. : http://dx.doi.org/10.1038/nm.4313
  • Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ: Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: A large patient cohort study. J Allergy Clin Immun, 2017; 139 (2): 597-606.e4. : http://dx.doi.org/10.1016/j.jaci.2016.06.021
  • de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Espanol T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, Gonzalez-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM: Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immun, 2017; 139 (4): 1282-1292. : http://dx.doi.org/10.1016/j.jaci.2016.07.039
  • de Melo KM, Unger S, Keller B, Gutenberger S, Stumpf I, Goldacker S, Warnatz K: Increase of circulating alpha4beta7+ conventional memory CD4 and regulatory T cells in patients with common variable immunodeficiency (CVID). Clin Immunol, 2017; 180: 80-83. : http://dx.doi.org/10.1016/j.clim.2017.03.006
  • Dolezal E, Infantino S, Drepper F, Borsig T, Singh A, Wossning T, Fiala GJ, Minguet S, Warscheid B, Tarlinton DM, Jumaa H, Medgyesi D, Reth M: The BTG2-PRMT1 module limits pre-B cell expansion by regulating the Nat Immunol, 2017; 18 (8): 911-920. : http://dx.doi.org/10.1038/ni.3774
  • Dornhof R, Maschowski C, Osipova A, Giere R, Seidl M, Merfort I, Humar M: Stress fibers, autophagy and necrosis by persistent exposure to PM2.5 from biomass combustion. Plos One, 2017; 12 (7): e0180291-e0180291. : http://dx.doi.org/10.1371/journal.pone.0180291
  • Elgizouli M, Logan C, Grychtol R, Rothenbacher D, Nieters A, Heinzmann A: Reduced PRF1 enhancer methylation in children with a history of severe RSV bronchiolitis in infancy: an association study. Bmc Pediatr, 2017; 17 (1): 65-65. : http://dx.doi.org/10.1186/s12887-017-0817-9
  • Feuerstein R, Kolter J, Henneke P: Dynamic interactions between dermal macrophages and Staphylococcus aureus. J Leukocyte Biol, 2017; 101 (1): 99-106. : http://dx.doi.org/10.1189/jlb.3MR0316-097RR
  • Gamez-Diaz L, Neumann J, Jager F, Proietti M, Felber F, Soulas-Sprauel P, Perruzza L, Grassi F, Kogl T, Aichele P, Kilimann M, Grimbacher B, Jung S: Immunological phenotype of the murine Lrba knockout. Immunol Cell Biol, 2017. : http://dx.doi.org/10.1038/icb.2017.52
  • Ghosh S, Honscheid A, Duckers G, Ginzel S, Gohlke H, Gombert M, Kempkes B, Klapper W, Kuhlen M, Laws HJ, Linka RM, Meisel R, Mielke C, Niehues T, Schindler D, Schneider D, Schuster FR, Speckmann C, Borkhardt A: Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency. Haematologica, 2017; 102 (2): e69-e72. : http://dx.doi.org/10.3324/haematol.2016.155838
  • Greil C, Roether F, La Rosee P, Grimbacher B, Duerschmied D, Warnatz K: Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient. J Clin Immunol, 2017; 37 (3): 273-276. : http://dx.doi.org/10.1007/s10875-017-0377-7
  • Jandl C, Liu SM, Canete PF, Warren J, Hughes WE, Vogelzang A, Webster K, Craig ME, Uzel G, Dent A, Stepensky P, Keller B, Warnatz K, Sprent J, King C: IL-21 restricts T follicular regulatory T cell proliferation through Bcl-6 mediated inhibition of responsiveness to IL-2. Nat Commun, 2017; 8: 14647-14647. : http://dx.doi.org/10.1038/ncomms14647
  • Jolles S, Sanchez-Ramon S, Quinti I, Soler-Palacin P, Agostini C, Florkin B, Couderc LJ, Brodszki N, Jones A, Longhurst H, Warnatz K, Haerynck F, Matucci A, de Vries E: SCREENING PROTOCOLS TO MONITOR RESPIRATORY STATUS IN PRIMARY IMMUNODEFICIENCY DISEASE: FINDINGS FROM A EUROPEAN SURVEY AND SUBCLINICAL INFECTION WORKING GROUP. Clin Exp Immunol, 2017. : http://dx.doi.org/10.1111/cei.13012
  • Jung S, Martin T, Schmittbuhl M, Huck O: The spectrum of orofacial manifestations in systemic sclerosis: a challenging management. Oral Dis, 2017; 23 (4): 424-439. : http://dx.doi.org/10.1111/odi.12507
  • Keller B, Cseresnyes Z, Stumpf I, Wehr C, Fliegauf M, Bulashevska A, Usadel S, Grimbacher B, Rizzi M, Eibel H, Niesner R, Warnatz K: Disturbed canonical nuclear factor of kappa light chain signaling in B cells of patients with common variable immunodeficiency. J Allergy Clin Immun, 2017; 139 (1): 220-231. : http://dx.doi.org/10.1016/j.jaci.2016.04.043
  • Keller B, Stumpf I, Strohmeier V, Usadel S, Verhoeyen E, Eibel H, Warnatz K: High SYK Expression Drives Constitutive Activation of CD21low B Cells. J Immunol, 2017; 198 (11): 4285-4292. : http://dx.doi.org/10.4049/jimmunol.1700079
  • Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S: Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.05.039
  • Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B: Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. Haematologica, 2017; 102 (2): e52-e56. : http://dx.doi.org/10.3324/haematol.2016.153411
  • Klobassa DS, Dworzak MN, Lanz S, Skrabl-Baumgartner A, Beham-Schmid C, Cerroni L, Haas OA, Wlodarski M, Salzer U, Lackner H, Benesch M, Schwinger W, Urban C, Seidel MG: Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy. Pediatr Blood Cancer, 2017. : http://dx.doi.org/10.1002/pbc.26724
  • Lange B, Khan P, Kalmambetova G, Al-Darraji HA, Alland D, Antonenka U, Brown T, Balcells ME, Blakemore R, Denkinger CM, Dheda K, Hoffmann H, Kadyrov A, Lemaitre N, Miller MB, Nikolayevskyy V, Ntinginya EN, Ozkutuk N, Palacios JJ, Popowitch EB, Porcel JM, Teo J, Theron G, Kranzer K: Diagnostic accuracy of the Xpert(R) MTB/RIF cycle threshold level to predict smear positivity: a meta-analysis. Int J Tuberc Lung D, 2017; 21 (5): 493-502. : http://dx.doi.org/10.5588/ijtld.16.0702
  • Law PJ, Berndt SI, Speedy HE, Camp NJ, Sava GP, Skibola CF, Holroyd A, Joseph V, Sunter NJ, Nieters A, Bea S, Monnereau A, Martin-Garcia D, Goldin LR, Clot G, Teras LR, Quintela I, Birmann BM, Jayne S, Cozen W, Majid A, Smedby KE, Lan Q, Dearden C, Brooks-Wilson AR, Hall AG, Purdue MP, Mainou-Fowler T, Vajdic CM, Jackson GH, Cocco P, Marr H, Zhang Y, Zheng T, Giles GG, Lawrence C, Call TG, Liebow M, Melbye M, Glimelius B, Mansouri L, Glenn M, Curtin K, Diver WR, Link BK, Conde L, Bracci PM, Holly EA, Jackson RD, Tinker LF, Benavente Y, Boffetta P, Brennan P, Maynadie M, McKay J, Albanes D, Weinstein S, Wang Z, Caporaso NE, Morton LM, Severson RK, Riboli E, Vineis P, Vermeulen RC, Southey MC, Milne RL, Clavel J, Topka S, Spinelli JJ, Kraft P, Ennas MG, Summerfield G, Ferri GM, Harris RJ, Miligi L, Pettitt AR, North KE, Allsup DJ, Fraumeni JF, Bailey JR, Offit K, Pratt G, Hjalgrim H, Pepper C, Chanock SJ, Fegan C, Rosenquist R, de Sanjose S, Carracedo A, Dyer MJ, Catovsky D, Campo E, Cerhan JR, Allan JM, Rothman N, Houlston R, Slager S: Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia. Nat Commun, 2017; 8: 14175-14175. : http://dx.doi.org/10.1038/ncomms14175
  • Lee SH*, Turchiano G*, Ata H*, Nowsheen S, Romito M, Lou Z, Ryu SM, Ekker SC, Cathomen T, Kim JS: Failure to detect DNA-guided genome editing using Natronobacterium gregoryi Argonaute. Nat Biotechnol, 2017; 35 (1): 17-18. : http://dx.doi.org/10.1038/nbt.3753
  • Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR: Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.03.049
  • Liu X, Pichulik T, Wolz OO, Dang TM, Stutz A, Dillen C, Delmiro Garcia M, Kraus H, Dickhofer S, Daiber E, Munzenmayer L, Wahl S, Rieber N, Kummerle-Deschner J, Yazdi A, Franz-Wachtel M, Macek B, Radsak M, Vogel S, Schulte B, Walz JS, Hartl D, Latz E, Stilgenbauer S, Grimbacher B, Miller L, Brunner C, Wolz C, Weber AN: Human NACHT, LRR, and PYD domain-containing protein 3 (NLRP3) inflammasome activity is regulated by and potentially targetable through Bruton tyrosine kinase. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.01.017
  • Lougaris V, Moratto D, Baronio M, Tampella G, van der Meer JW, Badolato R, Fliegauf M, Plebani A: Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1-mutated common variable immunodeficiency disease. J Allergy Clin Immun, 2017; 139 (1): 349-352.e1. : http://dx.doi.org/10.1016/j.jaci.2016.05.045
  • Lougaris V, Patrizi O, Baronio M, Tabellini G, Tampella G, Damiati E, Frede N, van der Meer JW, Fliegauf M, Grimbacher B, Parolini S, Plebani A: NFKB1 regulates human NK cell maturation and effector functions. Clin Immunol, 2017; 175: 99-108. : http://dx.doi.org/10.1016/j.clim.2016.11.012
  • Mahlaoui N, Warnatz K, Jones A, Workman S, Cant A: Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood. J Clin Immunol, 2017; 37 (5): 452-460. : http://dx.doi.org/10.1007/s10875-017-0401-y
  • Maler MD, Nielsen PJ, Stichling N, Cohen I, Ruzsics Z, Wood C, Engelhard P, Suomalainen M, Gyory I, Huber M, Muller-Quernheim J, Schamel WWA, Gordon S, Jakob T, Martin SF, Jahnen-Dechent W, Greber UF, Freudenberg MA, Fejer G: Key Role of the Scavenger Receptor MARCO in Mediating Adenovirus Infection and Subsequent Innate Responses of Macrophages. Mbio, 2017; 8 (4). : http://dx.doi.org/10.1128/mBio.00670-17
  • Meinicke H, Bremser A, Brack M, Akeus P, Pearson C, Bullers S, Hoffmeyer K, Stemmler MP, Quiding-Jarbrink M, Izcue A: Tumour-associated changes in intestinal epithelial cells cause local accumulation of KLRG1+ GATA3+ regulatory T cells in mice. Immunology, 2017; 152 (1): 74-88. : http://dx.doi.org/10.1111/imm.12750
  • Meinicke H, Bremser A, Brack M, Schrenk K, Pircher H, Izcue A: KLRG1 impairs regulatory T-cell competitive fitness in the gut. Immunology, 2017; 152 (1): 65-73. : http://dx.doi.org/10.1111/imm.12749
  • Minguet S, Klasener K, Schaffer AM, Fiala GJ, Osteso-Ibanez T, Raute K, Navarro-Lerida I, Hartl FA, Seidl M, Reth M, Del Pozo MA: Caveolin-1-dependent nanoscale organization of the BCR regulates B cell tolerance. Nat Immunol, 2017. : http://dx.doi.org/10.1038/ni.3813
  • Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Gungor T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Doffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C: Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations. Blood, 2017. : http://dx.doi.org/10.1182/blood-2017-03-771600
  • Monasterio C, Schmitt-Graff A, Pohl M, Truschel T, Warnatz K, Kreisel W, Thimme R, Hasselblatt P: Fatal ulcerative enteritis of the small intestine in a patient with ulcerative colitis treated with vedolizumab. Z Gastroenterol, 2017. : http://dx.doi.org/10.1055/s-0043-111805
  • Murgueitio MS, Ebner S, Hortnagl P, Rakers C, Bruckner R, Henneke P, Wolber G, Santos-Sierra S: Enhanced immunostimulatory activity of in silico discovered agonists of Toll-like receptor 2 (TLR2). Biochim Biophys Acta, 2017. : http://dx.doi.org/10.1016/j.bbagen.2017.07.011
  • Nabhani S, Schipp C, Miskin H, Levin C, Postovsky S, Dujovny T, Koren A, Harlev D, Bis AM, Auer F, Keller B, Warnatz K, Gombert M, Ginzel S, Borkhardt A, Stepensky P, Fischer U: STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. Clin Immunol, 2017; 181: 32-42. : http://dx.doi.org/10.1016/j.clim.2017.05.021
  • Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, Booth C, Rao K, Laberko A, Rodina J, Bertrand Y, Koltan S, Debski R, Flood T, Abinun M, Gennery AR, Hambleton S, Ehl S, Cant AJ: Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. J Allergy Clin Immun, 2017; 139 (3): 1046-1049. : http://dx.doi.org/10.1016/j.jaci.2016.09.040
  • Navarini AA, Hruz P, Berger CT, Hou TZ, Schwab C, Gabrysch A, Higgins R, Frede N, Padberg Sgier BC, Kampe O, Burgener AV, Marquardsen F, Baldin F, Bigler M, Kistner A, Jauch A, Bignucolo O, Meyer B, Meienberg F, Mehling M, Jeker LT, Heijnen I, Daikeler TD, Gebbers JO, Grimbacher B, Sansom DM, Jeker R, Hess C, Recher M: Vedolizumab as a successful treatment of CTLA-4-associated autoimmune enterocolitis. J Allergy Clin Immun, 2017; 139 (3): 1043-1046.e5. : http://dx.doi.org/10.1016/j.jaci.2016.08.042
  • Ngoenkam J, Schamel W, Pongcharoen S: Selected signalling proteins recruited to the T cell receptor-CD3 complex. Immunology, 2017. : http://dx.doi.org/10.1111/imm.12809
  • Orr N, Hajiyiannis H, Myers L, Makhubele MB, Matekane T, Delate R, Mahlasela L, Goldblatt B: Development of a National Campaign Addressing South African Men's Fears About HIV Counseling and Testing and Antiretroviral Treatment. J Acq Immun Def Synd, 2017; 74 Suppl 1: S69-S73. : http://dx.doi.org/10.1097/QAI.0000000000001204
  • Perez-Cornago A, Appleby PN, Tipper S, Key TJ, Allen NE, Nieters A, Vermeulen R, Roulland S, Casabonne D, Kaaks R, Fortner RT, Boeing H, Trichopoulou A, La Vecchia C, Klinaki E, Hansen L, Tjonneland A, Bonnet F, Fagherazzi G, Boutron-Ruault MC, Pala V, Masala G, Sacerdote C, Peeters PH, Bueno-de-Mesquita HB, Weiderpass E, Dorronsoro M, Quiros JR, Barricarte A, Gavrila D, Agudo A, Borgquist S, Rosendahl AH, Melin B, Wareham N, Khaw KT, Gunter M, Riboli E, Vineis P, Travis RC: Prediagnostic circulating concentrations of plasma insulin-like growth factor-I and risk of lymphoma in the European Prospective Investigation into Cancer and Nutrition. Int J Cancer, 2017; 140 (5): 1111-1118. : http://dx.doi.org/10.1002/ijc.30528
  • Peter HH, Kalden JR, Pichler WJ, Schmidt RE: [Obituary for Prof. Dr. med. Helmuth Deicher]. Z Rheumatol, 2017. : http://dx.doi.org/10.1007/s00393-017-0367-4
  • Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B: Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea Inflamm Bowel Dis, 2017; 23 (12): 2109-2120.
  • Pott MC, Frede N, Wanders J, Hammarstrom L, Glocker EO, Glocker C, Tahami F, Grimbacher B: Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies? Bmc Immunol, 2017; 18 (1): 34-34. : http://dx.doi.org/10.1186/s12865-017-0217-9
  • Salzer U, Warnatz K: [Primary Immunodeficiency in Adults]. Deut Med Wochenschr, 2017; 142 (11): 829-832. : http://dx.doi.org/10.1055/s-0043-105094
  • Schamel WW, Alarcon B, Hofer T, Minguet S: The Allostery Model of TCR Regulation. J Immunol, 2017; 198 (1): 47-52. : http://dx.doi.org/10.4049/jimmunol.1601661
  • Schepp J, Chou J, Skrabl-Baumgartner A, Arkwright PD, Engelhardt KR, Hambleton S, Morio T, Röther E, Warnatz K, Geha R, Grimbacher B: 14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency Front Immunol, 2017; 8: 964.
  • Schepp J, Proietti M, Frede N, Buchta M, Hübscher K, Rojas Restrepo J, Goldacker S, Warnatz K, Pachlopnik Schmid J, Duppenthaler A, Lougaris V, Uriarte I, Kelly S, Hershfield M, Grimbacher B: Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood. Arthritis Rheumatol, 2017; 69 (8): 1689-1700.
  • Schroder C, Baerlecken NT, Pannicke U, Dork T, Witte T, Jacobs R, Stoll M, Schwarz K, Grimbacher B, Schmidt RE, Atschekzei F: Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy. Clin Immunol, 2017; 179: 1-7. : http://dx.doi.org/10.1016/j.clim.2016.12.013
  • Schubert D, Klein MC, Hassdenteufel S, Caballero-Oteyza A, Yang L, Proietti M, Bulashevska A, Kemming J, Kuhn J, Winzer S, Rusch S, Fliegauf M, Schaffer AA, Pfeffer S, Geiger R, Cavalie A, Cao H, Yang F, Li Y, Rizzi M, Eibel H, Kobbe R, Marks AL, Peppers BP, Hostoffer RW, Puck JM, Zimmermann R, Grimbacher B: Plasma cell deficiency in humans with heterozygous mutations in SEC61A1. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.06.042
  • Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Muller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH: A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med, 2017. : http://dx.doi.org/10.1084/jem.20161810
  • Seidel MG, Bohm K, Dogu F, Worth A, Thrasher A, Florkin B, Ikinciogullari A, Peters A, Bakhtiar S, Meeths M, Stepensky P, Meyts I, Sharapova SO, Gamez-Diaz L, Hammarstrom L, Ehl S, Grimbacher B, Gennery AR: Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.04.023
  • Simpson JK, Frobel P, Seneviratne SL, Brown M, Lowe DM, Grimbacher B, Fliegauf M, Fearfield L: Invasive dermatophyte infection with trichophyton interdigitale is associated with prurigo induced pseudoperforation and a STAT3 mutation. Brit J Dermatol, 2017. : http://dx.doi.org/10.1111/bjd.15781
  • Smulski CR, Decossas M, Chekkat N, Beyrath J, Willen L, Guichard G, Lorenzetti R, Rizzi M, Eibel H, Schneider P, Fournel S: Hetero-oligomerization between the TNF receptor superfamily members CD40, Fas and TRAILR2 modulate CD40 signalling. Cell Death Dis, 2017; 8 (2): e2601-e2601. : http://dx.doi.org/10.1038/cddis.2017.22
  • Smulski CR, Kury P, Seidel LM, Staiger HS, Edinger AK, Willen L, Seidl M, Hess H, Salzer U, Rolink AG, Rizzi M, Schneider P, Eibel H: BAFF- and TACI-Dependent Processing of BAFFR by ADAM Proteases Regulates the Survival of B Cells. Cell Rep, 2017; 18 (9): 2189-2202. : http://dx.doi.org/10.1016/j.celrep.2017.02.005
  • Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, Gonzalez-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S: A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis. J Allergy Clin Immun, 2017; 139 (4): 1302-1310.e4. : http://dx.doi.org/10.1016/j.jaci.2016.07.040
  • Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Gohring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW: Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol, 2017; 8: 449-449. : http://dx.doi.org/10.3389/fimmu.2017.00449
  • Sperlich JM, Grimbacher B, Workman S, Haque T, Seneviratne SL, Burns SO, Reiser V, Vach W, Hurst JR, Lowe DM: Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency. J Allergy Clin Immunol Pract, 2017. : http://dx.doi.org/10.1016/j.jaip.2017.05.024
  • Stickel N, Hanke K, Marschner D, Prinz G, Kohler M, Melchinger W, Pfeifer D, Schmitt-Graeff A, Brummer T, Heine A, Brossart P, Wolf D, von Bubnoff N, Finke J, Duyster J, Ferrara J, Salzer U, Zeiser R: MicroRNA-146a reduces MHC-II expression via targeting JAK/STAT signaling in dendritic cells after stem cell transplantation. Leukemia, 2017. : http://dx.doi.org/10.1038/leu.2017.137
  • Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C: Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. Pediatr Allergy Immu, 2017; 28 (5): 412-429. : http://dx.doi.org/10.1111/pai.12734
  • Unger S, Seidl M, van Schouwenburg P, Rakhmanov M, Bulashevska A, Frede N, Grimbacher B, Pfeiffer J, Schrenk K, Munoz L, Hanitsch L, Stumpf I, Kaiser F, Hausmann O, Kollert F, Goldacker S, van der Burg M, Keller B, Warnatz K: The TH1 phenotype of follicular helper T cells indicates an IFN-gamma-associated immune dysregulation in patients with CD21low common variable immunodeficiency. J Allergy Clin Immun, 2017. : http://dx.doi.org/10.1016/j.jaci.2017.04.041
  • van de Ven AAJM, Seidl M, Drendel V, Schmitt-Graeff A, Voll RE, Rensing-Ehl A, Speckmann C, Ehl S, Warnatz K, Kollert F: IgG4-related disease in autoimmune lymphoproliferative syndrome. Clin Immunol, 2017; 180: 97-99. : http://dx.doi.org/10.1016/j.clim.2017.05.003
  • van de Vosse E, van Ostaijen-Ten Dam MM, Vermaire R, Verhard EM, Waaijer JL, Bakker JA, Bernards ST, Eibel H, van Tol MJ, van Dissel JT, Haverkamp MH: Recurrent respiratory tract infections (RRTI) in the elderly: A late onset mild immunodeficiency? Clin Immunol, 2017; 180: 111-119. : http://dx.doi.org/10.1016/j.clim.2017.05.008

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