Publications
2020
Activated PI3Kδ breaches multiple B cell tolerance checkpoints and causes autoantibody production.
Lau A,
Avery DT,
Jackson K,
Lenthall H,
Volpi S,
Brigden H,
Russell AJ,
Bier J,
Reed JH,
Smart JM,
Cole T,
Choo S,
Gray PE,
Berglund LJ,
Hsu P,
Wong M,
O'Sullivan M,
Boztug K,
Meyts I,
Uzel G,
Notarangelo LD,
Brink R,
Goodnow CC,
Tangye SG,
Deenick EK.
J Exp Med. 2020 Feb 3;217(2):e20191336. doi: 10.1084/jem.20191336.
2020
A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.
Çipe FE,
Aydoğmuş Ç,
Baskın K,
Keskindemirci G,
Garncarz W,
Boztuğ K.
Turk J Pediatr. 2020;62(2):326-331. doi: 10.24953/turkjped.2020.02.022.
2020
Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.
Gasteiger LM,
Robinson PN,
Pazmandi J,
Boztug K,
Seppänen MRJ,
Seidel MG; Registry Working Party of the European Society for Immunodeficiencies (ESID).
J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019.
2020
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,
Köstel Bal S,
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,
Avbelj Stefanija M,
Bakhtiar S,
Florkin B,
Meeths M,
Gamez L,
Grimbacher B,
Seppänen MRJ,
Lankester A,
Gennery AR,
Seidel MG; Inborn Errors,
Clinical,
and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies.
J Allergy Clin Immunol. 2020 May;145(5):1452-1463. doi: 10.1016/j.jaci.2019.12.896. Epub 2019 Dec 27.
2020
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. 2020 Jan;40(1):223-226. doi: 10.1007/s10875-019-00700-w. Epub 2019 Nov 4.
2020
Rheumatological manifestations in inborn errors of immunity.
Köstel Bal S,
Pazmandi J,
Boztug K,
Özen S.
Pediatr Res. 2020 Jan;87(2):293-299. doi: 10.1038/s41390-019-0600-8. Epub 2019 Oct 3.
2019
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E,
Platt CD,
Keles S,
Kuehn HS,
Beaussant-Cohen S,
Zhang Y,
Pazmandi J,
Lanzi G,
Pala F,
Tahiat A,
Artac H,
Heredia RJ,
Dmytrus J,
Reisli I,
Uygun V,
Uygun D,
Bingol A,
Basaran E,
Djenouhat K,
Benhalla N,
Bendahmane C,
Emiroglu M,
Kirchhausen T,
Pasham M,
Jones J,
Wallace JG,
Zheng L,
Boisson B,
Porta F,Rosenzweig SD,
Su H,
Giliani S,
Lenardo M,
Geha RS,
Boztug K,
Chou J,
NotarangeloLD.
J Allergy Clin Immunol. 2019Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26.
2019
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.
2019Jan;41(1):64-66. doi: 10.1097/MPH.0000000000001165.
2019
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
Pazmandi J,
Kalinichenko A,
Ardy RC,
Boztug K.
Immunol Rev. 2019 Jan;287(1):162-185. doi: 10.1111/imr.12726. Review.
2019
PD-L1 and PD1 expression in post-transplantation lymphoproliferative disease (PTLD) of childhood and adolescence: An inter- and intra-individual descriptive study covering the whole spectrum of PTLD categories.
Schiefer AI,
Salzer E,
Füreder A,
Szepfalusi Z,
Müller-Sacherer T,
Huber WD,
Michel-Behnke I,
Lawitschka A,
Pichler H,
Mann G,
Hutter C,
Simonitsch-Klupp I,Attarbaschi A.
Cancer Med. 2019 Jul 3. doi: 10.1002/cam4.2394. [Epub ahead of print]
