Publications
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.
2019
Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.
Conde CD,
Petronczki ÖY,
Baris S,
Willmann KL,
Girardi E,
Salzer E,
Weitzer S,
Ardy RC,
Krolo A,
Ijspeert H,
Kiykim A,
Karakoc-Aydiner E,
Förster-Waldl E,
Kager L,
Pickl WF,
Superti-Furga G,
Martínez J,
Loizou JI,
Ozen A,
van der Burg M,
Boztug K.
J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.
2019
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Cagdas D,
Halaçlı SO,
Tan Ç,
Lo B,
Çetinkaya PG,
Esenboğa S,
Karaatmaca B,
Matthews H,
Balcı-Hayta B,
Arıkoğlu T,
Ezgü F,
Aladağ E,
Saltık-Temizel İN,
Demir H,
Kuşkonmaz B,
Okur V,
Gümrük F,
Göker H,
Çetinkaya D,
Boztuğ K,
Lenardo M,
Sanal Ö,
Tezcan İ.
J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6.
2019
Systematic genetic mapping of necroptosis identifies SLC39A7 as modulator of death receptor trafficking.
Fauster A,
Rebsamen M,
Willmann KL,
César-Razquin A,
Girardi E,
Bigenzahn JW,Schischlik F,
Scorzoni S,
Bruckner M,
Konecka J,
Hörmann K,
Heinz LX,
Boztug K,Superti-Furga G.
Cell Death Differ. 2019Jun;26(6):1138-1155. doi: 10.1038/s41418-018-0192-6. Epub 2018 Sep 20.
2019
Activating PIK3CD mutations impair human cytotoxiclymphocyte differentiation and 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,
DeenickEK,
Uzel G,
Tangye SG.
J Allergy Clin Immunol.2019 Jan;143(1):276-291.e6. doi: 10.1016/j.jaci.2018.04.030. Epub 2018 May 22.
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 Nov - Dec;46(6):594-598. doi: 10.1016/j.aller.2018.02.004. Epub 2018 May 5.
2018
Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.
Şıklar Z,
de Franco E,
Johnson MB,
Flanagan SE,
Ellard S,
Ceylaner S,
Boztuğ K,
Doğu F,
İkincioğulları A,
Kuloğlu Z,
Kansu A,
Berberoğlu M.
Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.
2018
The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.
Schwinger W,
Urban C,
Ulreich R,
Sperl D,
Karastaneva A,
Strenger V,
Lackner H,
Boztug K,
Albert MH,
Benesch M,
Seidel MG.
Front Immunol. 2018 Nov 2;9:2554. doi: 10.3389/fimmu.2018.02554. eCollection 2018. Review.
2018
R-loops cause genomic instability in T helper lymphocytes from patients with Wiskott-Aldrich syndrome.
Sarkar K,
Han SS,
Wen KK,
Ochs HD,
Dupré L,
Seidman MM,
Vyas YM.
J Allergy Clin Immunol. 2018 Jul;142(1):219-234. doi: 10.1016/j.jaci.2017.11.023. Epub 2017 Dec 15.
2018
Thoracic Actinomycosis With Infiltration of the Spine: An Oncological Pitfall.
Ronceray L,
Friesenbichler W,
Hutter C,
Lakatos K,
Krizmanich W,
Amann G,
Boztug K,
Kager L,
Mann G,
Attarbaschi A.
J Pediatr Hematol Oncol. 2018 Aug;40(6):468-471. doi: 10.1097/MPH.0000000000001035.
