Publications
2019
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
Göschl L,
Winkler S,
Dmytrus J,
Heredia RJ,
Lagler H,
Ramharter M,
Scheinecker C,
Bonelli M,
Schmetterer K,
Pickl WF,
Grabmeier-Pfistershammer K,
Hershfield MS,
Boztug K,
Förster-Waldl E,
Gualdoni GA.
J Clin Immunol. 2019 Nov 4. doi: 10.1007/s10875-019-00700-w.
2019
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
Tesch VK,
Abolhassani H,
Shadur B,
Zobel J,
Mareika Y,
Sharapova S,
Karakoc-Aydiner E,
Rivière JG,
Garcia-Prat M,
Moes N,
Haerynck F,
Gonzales-Granado LI,
Santos Pérez JL,
Mukhina A,
Shcherbina A,
Aghamohammadi A,
Hammarström L,
Dogu F,
Haskologlu S,
İkincioğulları AI,
Bal SK,
Baris S,
Kilic SS,
Karaca NE,
Kutukculer N,
Girschick H,
Kolios A,
Keles S,
Uygun V,
Stepensky P,
Worth A,
van Montfrans JM,
Peters AMJ,
Meyts I,
Adeli M,
Marzollo A,
Padem N,
Khojah AM,
Chavoshzadeh Z,
Stefanija MA,
Bakhtiar S,
Florkin B,
Meeths M,
Gamez L,
Grimbacher B,
Seppänen MR,
Lankester A,
Gennery AR,
Seidel MG; Inborn Errors,
Clinical,
and Registry Working Parties of the European Society for Blood and Marrow Transplantation (EBMT) and the European Society of Immunodeficiencies (ESID).
J Allergy Clin Immunol. 2019 Dec 27. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896.
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.
