2018
EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.
Maas C,
Lüftinger R,
Krois W,
Matthes-Martin S,
Bayer G,
Boztug K,
Metzelder M.
Pediatr Blood Cancer. 2018 Jun 1:e27258. doi: 10.1002/pbc.27258. [Epub ahead of print]
2018
Detection of Chemical Engagement of Solute Carrier Proteins by a Cellular Thermal Shift Assay.
Hashimoto M,
Girardi E,
Eichner R,
Superti-Furga G.
ACS Chem Biol. 2018 Jun 6. doi: 10.1021/acschembio.8b00270. [Epub ahead of print]
2018
An ERK-Dependent Feedback Mechanism Prevents Hematopoietic Stem Cell Exhaustion.
Baumgartner C,
Toifl S,
Farlik M,
Halbritter F,
Scheicher R,
Fischer I,
Sexl V,
Bock C,
Baccarini M.
Cell Stem Cell. 2018 Jun 1;22(6):879-892.e6. doi: 10.1016/j.stem.2018.05.003. Epub 2018 May 24.
2018
Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation, function and EBV immunity.
Edwards ESJ,
Bier J,
Cole TS,
Wong M,
Hsu P,
Berglund LJ,
Boztug K,
Lau A,
Gostick E,
Price DA,
O'Sullivan M,
Meyts I,
Choo S,
Gray P,
Holland SM,
Deenick EK,
Uzel G,
Tangye SG.
J Allergy Clin Immunol. 2018 May 22. pii: S0091-6749(18)30702-4. doi: 10.1016/j.jaci.2018.04.030. [Epub ahead of print]
2018
The Bicarbonate Transporter SLC4A7 Plays a Key Role in Macrophage Phagosome Acidification.
Sedlyarov V,
Eichner R,
Girardi E,
Essletzbichler P,
Goldmann U,
Nunes-Hasler P,
Srndic I,
Moskovskich A,
Heinz LX,
Kartnig F,
Bigenzahn JW,
Rebsamen M,
Kovarik P,
Demaurex N,
Superti-Furga G.
Cell Host Microbe. 2018 Jun 13;23(6):766-774.e5. doi: 10.1016/j.chom.2018.04.013.
2018
MLL-fusion-driven leukemia requires SETD2 to safeguard genomic integrity.
Skucha A,
Ebner J,
Schmöllerl J,
Roth M,
Eder T,
César-Razquin A,
Stukalov A,
Vittori S,
Muhar M,
Lu B,
Aichinger M,
Jude J,
Müller AC,
Győrffy B,
Vakoc CR,
Valent P,
Bennett KL,
Zuber J,
Superti-Furga G,
Grebien F.
Nat Commun. 2018 May 18;9(1):1983. doi: 10.1038/s41467-018-04329-y.
2018
mTOR Senses Environmental Cues to Shape the Fibroblast-like Synoviocyte Response to Inflammation.
Cell Rep. 2018 May 15;23(7):2157-2167. doi: 10.1016/j.celrep.2018.04.044.
2018
Mutations affecting the actin regulator WDR1 lead to aberrant lymphoid immunity.
Pfajfer L,
Mair NK,
Jiménez-Heredia R,
Genel F,
Gulez N,
Ardeniz Ö,
Hoeger B,
Bal SK,
Madritsch C,
Kalinichenko A,
Chandra Ardy R,
Gerçeker B,
Rey-Barroso J,
Ijspeert H,
Tangye SG,
Simonitsch-Klupp I,
Huppa JB,
van der Burg M,
Dupré L,
Boztug K.
J Allergy Clin Immunol. 2018 May 8. pii: S0091-6749(18)30694-8. doi: 10.1016/j.jaci.2018.04.023. [Epub ahead of print]
2018
Exome sequencing revealed C1Q homozygous mutation in Pediatric Systemic Lupus Erythematosus.
Zoghi S,
Ziaee V,
Hirschmugl T,
Jimenez-Heredia R,
Krolo A,
Boztug K,
Rezaei N.
Allergol Immunopathol (Madr). 2018 May 5. pii: S0301-0546(18)30047-8. doi: 10.1016/j.aller.2018.02.004. [Epub ahead of print]
2018
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.
Cagdas D,
Gur Cetinkaya P,
Karaatmaca B,
Esenboga S,
Tan C,
Yılmaz T,
Gümüş E,
Barış S,
Kuşkonmaz B,
Ozgur TT,
Bali P,
Santisteban I,
Orhan D,
Yüce A,
Cetinkaya D,
Boztug K,
Hershfield M,
Sanal O,
Tezcan İ.
J Clin Immunol. 2018 May 9. doi: 10.1007/s10875-018-0496-9. [Epub ahead of print]
