Publications
2018
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. 2018 Sep 20. doi: 10.1038/s41418-018-0192-6. [Epub ahead of print]
2018
Germline-activating mutations in PIK3CD compromise B cell development and function.
Avery DT,
Kane A,
Nguyen T,
Lau A,
Nguyen A,
Lenthall H,
Payne K,
Shi W,
Brigden H,
French E,
Bier J,
Hermes JR,
Zahra D,
Sewell WA,
Butt D,
Elliott M,
Boztug K,
Meyts I,
Choo S,
Hsu P,
Wong M,
Berglund LJ,
Gray P,
O'Sullivan M,
Cole T,
Holland SM,
Ma CS,
Burkhart C,
Corcoran LM,
Phan TG,
Brink R,
Uzel G,
Deenick EK,
Tangye SG.
J Exp Med. 2018 Aug 6;215(8):2073-2095. doi: 10.1084/jem.20180010. Epub 2018 Jul 17.
2018
MHC class II deficiency: Report of a novel mutation and special review.
Farrokhi S,
Shabani M,
Aryan Z,
Zoghi S,
Krolo A,
Boztug K,
Rezaei N.
Allergol Immunopathol (Madr). 2018 May - Jun;46(3):263-275. doi: 10.1016/j.aller.2017.04.006. Epub 2017 Jul 1. Review.
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
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
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]
2018
Hematopoietic Stem Cell Transplantation From Unrelated Donors in 2 Cases of Interleukin-10 Receptor Deficiency: Is Surgery Not a Requirement? J Pediatr Hematol Oncol.
Kocacik Uygun DF,
Uygun V,
Daloğlu H,
Öztürkmen S,
Karasu G,
Reisli İ,
Sayar E,
Yüksekkaya HA,
Glocker EO,
Boztuğ K,
Yeşilipek A.
2018 Apr 20. doi: 10.1097/MPH.0000000000001165. [Epub ahead of print]
2018
CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils.
Serwas NK,
Huemer J,
Dieckmann R,
Mejstrikova E,
Garncarz W,
Litzman J,
Hoeger B,
Zapletal O,
Janda A,
Bennett KL,
Kain R,
Kerjaschky D,
Boztug K.
Front Immunol. 2018 Mar 29;9:588. doi: 10.3389/fimmu.2018.00588. eCollection 2018.
