Works by Boztug, Kaan

Results: 75
    1
    2
    3

    Trichuris suis induces human non-classical patrolling monocytes via the mannose receptor and PKC: implications for multiple sclerosis.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-015-0223-1
    By:
    • Kooij, Gijs;
    • Braster, Rens;
    • Koning, Jasper J.;
    • Laan, Lisa C.;
    • van Vliet, Sandra J.;
    • Los, Tamara;
    • Eveleens, Anne Marieke;
    • van der Pol, Susanne M. A.;
    • Förster-Waldl, Elisabeth;
    • Boztug, Kaan;
    • Belot, Alexandre;
    • Szilagyi, Katka;
    • van den Berg, Timo K.;
    • van Buul, Jaap D.;
    • van Egmond, Marjolein;
    • de Vries, Helga E.;
    • Cummings, Richard D.;
    • Dijkstra, Christine D.;
    • van Die, Irma
    Publication type:
    Article
    4
    5
    6
    7
    8
    9

    LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

    Published in:
    Acta Medica Iranica, 2016, v. 54, n. 10, p. 620
    By:
    • Shokri, Sima;
    • Nabavi, Mohammad;
    • Hirschmugl, Tatjana;
    • Aghamohammadi, Asghar;
    • Arshi, Saba;
    • Bemanian, Mohamad Hassan;
    • Fallahpour, Morteza;
    • Molatefi, Rasool;
    • Rekabi, Mahsa;
    • Eslami, Narges;
    • Ahmadian, Javad;
    • Darabi, Kian;
    • Sedighi, Gholam Reza;
    • Monajemzadeh, Maryam;
    • Modaresi, Mohammadreza;
    • Parvaneh, Nima;
    • Boztug, Kaan;
    • Rezaei, Nima
    Publication type:
    Article
    10
    11

    Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.

    Published in:
    British Journal of Haematology, 2023, v. 203, n. 4, p. 678, doi. 10.1111/bjh.19061
    By:
    • Novak, Wolfgang;
    • Berner, Jakob;
    • Svaton, Michael;
    • Jimenez‐Heredia, Raul;
    • Segarra‐Roca, Anna;
    • Frohne, Alexandra;
    • Guiliani, Sarah;
    • Rouhani, David;
    • Eder, Sebastian K.;
    • Rottal, Arno;
    • Trapin, Doris;
    • Scheuchenstuhl, Anja;
    • Pickl, Winfried F.;
    • Simonitsch‐Klupp, Ingrid;
    • Kager, Leo;
    • Boztug, Kaan
    Publication type:
    Article
    12
    13

    HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

    Published in:
    Nature Genetics, 2007, v. 39, n. 1, p. 86, doi. 10.1038/ng1940
    By:
    • Klein, Christoph;
    • Grudzien, Magda;
    • Appaswamy, Giridharan;
    • Germeshausen, Manuela;
    • Sandrock, Inga;
    • Schäffer, Alejandro A.;
    • Rathinam, Chozhavendan;
    • Boztug, Kaan;
    • Schwinzer, Beate;
    • Rezaei, Nima;
    • Bohn, Georg;
    • Melin, Malin;
    • Carlsson, Göran;
    • Fadeel, Bengt;
    • Dahl, Niklas;
    • Palmblad, Jan;
    • Henter, Jan-Inge;
    • Zeidler, Cornelia;
    • Grimbacher, Bodo;
    • Welte, Karl
    Publication type:
    Article
    14

    G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.

    Published in:
    Glycobiology, 2011, v. 21, n. 7, p. 914, doi. 10.1093/glycob/cwr023
    By:
    • Hayee, Bu'Hussain;
    • Antonopoulos, Aristotelis;
    • Murphy, Emma J;
    • Rahman, Farooq Z;
    • Sewell, Gavin;
    • Smith, Bradley N;
    • McCartney, Sara;
    • Furman, Mark;
    • Hall, Georgina;
    • Bloom, Stuart L;
    • Haslam, Stuart M;
    • Morris, Howard R;
    • Boztug, Kaan;
    • Klein, Christoph;
    • Winchester, Bryan;
    • Pick, Edgar;
    • Linch, David C;
    • Gale, Rosemary E;
    • Smith, Andrew M;
    • Dell, Anne
    Publication type:
    Article
    15
    16
    17
    18
    19

    Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease.

    Published in:
    Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1123327
    By:
    • Tallgren, Antti;
    • Kager, Leo;
    • O'Grady, Gina;
    • Tuominen, Hannu;
    • Körkkö, Jarmo;
    • Kuismin, Outi;
    • Feucht, Martha;
    • Wilson, Callum;
    • Behunova, Jana;
    • England, Eleina;
    • Kurki, Mitja I.;
    • Palotie, Aarno;
    • Hallman, Mikko;
    • Kaarteenaho, Riitta;
    • Laccone, Franco;
    • Boztug, Kaan;
    • Hinttala, Reetta;
    • Uusimaa, Johanna
    Publication type:
    Article
    20

    Mutations outside the N-terminal part of <italic>RBCK1</italic> may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum.

    Published in:
    Journal of Neurology, 2018, v. 265, n. 2, p. 394, doi. 10.1007/s00415-017-8710-x
    By:
    • Krenn, Martin;
    • Salzer, Elisabeth;
    • Simonitsch-Klupp, Ingrid;
    • Rath, Jakob;
    • Wagner, Matias;
    • Haack, Tobias B.;
    • Strom, Tim M.;
    • Schänzer, Anne;
    • Kilimann, Manfred W.;
    • Schmidt, Ralf L. J.;
    • Schmetterer, Klaus G.;
    • Zimprich, Alexander;
    • Boztug, Kaan;
    • Hahn, Andreas;
    • Zimprich, Fritz
    Publication type:
    Article
    21
    22
    23

    Novel PGM3 mutation in two siblings with combined immunodeficiency and childhood bullous pemphigoid: a case report and review of the literature.

    Published in:
    Allergy, Asthma & Clinical Immunology, 2022, v. 18, n. 1, p. 1, doi. 10.1186/s13223-022-00749-0
    By:
    • Fallahi, Mazdak;
    • Jamee, Mahnaz;
    • Enayat, Javad;
    • Abdollahimajd, Fahimeh;
    • Mesdaghi, Mehrnaz;
    • Khoddami, Maliheh;
    • Segarra-Roca, Anna;
    • Frohne, Alexandra;
    • Dmytrus, Jasmin;
    • Keramatipour, Mohammad;
    • Mansouri, Mahboubeh;
    • Eslamian, Golnaz;
    • Fallah, Shahrzad;
    • Boztug, Kaan;
    • Chavoshzadeh, Zahra
    Publication type:
    Article
    24

    Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

    Published in:
    Scandinavian Journal of Immunology, 2022, v. 95, n. 4, p. 1, doi. 10.1111/sji.13136
    By:
    • Velez‐Tirado, Natalia;
    • Yamazaki‐Nakashimada, Marco Antonio;
    • Lopez Valentín, Enrique;
    • Partida‐Gaytan, Armando;
    • Scheffler‐Mendoza, Selma C.;
    • Chaia Semerena, Genny M.;
    • Alvarez‐Cardona, Aristóteles;
    • Suárez Gutiérrez, Marcos Alejandro;
    • Medina Torres, Edgar Alejandro;
    • Baeza Capetillo, Patricia;
    • Hirschmugl, Tatjana;
    • Garncarz, Wojciech;
    • Espinosa‐Padilla, Sara Elva;
    • Aguirre Hernández, Jesús;
    • Klein, Christoph;
    • Boztug, Kaan;
    • Lugo Reyes, Saul O.
    Publication type:
    Article
    25
    26

    Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

    Published in:
    Science Immunology, 2021, v. 6, n. 65, p. 1, doi. 10.1126/sciimmunol.abe3981
    By:
    • Shahin, Tala;
    • Kuehn, Hye Sun;
    • Shoeb, Mohamed R.;
    • Gawriyski, Lisa;
    • Giuliani, Sarah;
    • Repiscak, Peter;
    • Hoeger, Birgit;
    • Petronczki, Özlem Yüce;
    • Bal, Sevgi Köstel;
    • Zoghi, Samaneh;
    • Dmytrus, Jasmin;
    • Seruggia, Davide;
    • Castanon\, Irinka;
    • Rezaei, Nima;
    • Varjosalo, Markku;
    • Halbritter, Florian;
    • Rosenzweig, Sergio D.;
    • Boztug, Kaan
    Publication type:
    Article
    27

    B-cell signaling in persistent polyclonal B lymphocytosis (PPBL).

    Published in:
    Immunology & Cell Biology, 2016, v. 94, n. 9, p. 830, doi. 10.1038/icb.2016.46
    By:
    • Voelxen, Nadine;
    • Wehr, Claudia;
    • Gutenberger, Sylvia;
    • Keller, Baerbel;
    • Erlacher, Miriam;
    • Dominguez‐Conde, Cecilia;
    • Bertele, Daniela;
    • Emmerich, Florian;
    • Pantic, Milena;
    • Jennings, Stefanie;
    • Rakhmanov, Mirzokhid;
    • Foerster, Christian;
    • Martens, Uwe M;
    • Platzbecker, Uwe;
    • Peter, Hans‐Hartmut;
    • Fisch, Paul;
    • Boztug, Kaan;
    • Eibel, Hermann;
    • Salzer, Ulrich;
    • Warnatz, Klaus
    Publication type:
    Article
    28

    Gene Therapy for Wiskott-Aldrich Syndrome--Long-Term Efficacy and Genotoxicity.

    Published in:
    Science Translational Medicine, 2014, v. 6, n. 227, p. 1, doi. 10.1126/scitranslmed.3007280
    By:
    • Braun, Christian Jörg;
    • Boztug, Kaan;
    • Paruzynski, Anna;
    • Witzel, Maximilian;
    • Schwarzer, Adrian;
    • Rothe, Michael;
    • Modlich, Ute;
    • Beier, Rita;
    • Göhring, Gudrun;
    • Steinemann, Doris;
    • Fronza, Raffaele;
    • Ball, Claudia Regina;
    • Haemmerle, Reinhard;
    • Naundorf, Sonja;
    • Kühlcke, Klaus;
    • Rose, Martina;
    • Fraser, Chris;
    • Mathias, Liesl;
    • Ferrari, Rudolf;
    • Abboud, Miguel R.
    Publication type:
    Article
    29
    30
    31
    32
    33
    34
    35
    36
    37

    Extended Phenotype of VPS45 Defect with Additional Features of Combined Immunodeficiency and Neuromotor Developmental Delay Along with Severe Congenital Neutropenia.

    Published in:
    Asthma Allergy Immunology / Astim Allerji Immunoloji, 2024, v. 22, n. 3, p. 269, doi. 10.21911/aai.2024.617
    By:
    • BAL, Sevgi KOSTEL;
    • ISLAMOGLU, Candan;
    • HASKOLOGLU, Sule;
    • KARAMAN, Sait;
    • JIMENEZ-HEREDIA, Raul;
    • ROCA, Anna SEGARRA;
    • GENEL, Ferah;
    • GULEZ, Nesrin;
    • AYTEKIN, Caner;
    • BOZTUG, Kaan;
    • DOGU, Figen;
    • IKINCIOGULLARI, Aydan
    Publication type:
    Article
    38

    Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 5, p. 1, doi. 10.1007/s10875-024-01707-8
    By:
    • Tuna Kırsaçlıoğlu, Ceyda;
    • Frohne, Alexandra;
    • Kuloğlu, Zarife;
    • Kristofersdottir, Isidora;
    • Demir, Engin;
    • Altuntaş, Cansu;
    • Haskoloğlu, Zehra Şule;
    • Çobanoğlu, Fatma Nazan;
    • Kendirli, Tanıl;
    • Özdemir, Halil;
    • Özçakar, Zeynep Birsin;
    • Savaş, Berna;
    • Doğu, Figen;
    • İkincioğulları, Aydan;
    • Boztug, Kaan;
    • Kansu, Aydan
    Publication type:
    Article
    39

    Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01682-0
    By:
    • Karakus, Ibrahim Serhat;
    • Catak, Mehmet Cihangir;
    • Frohne, Alexandra;
    • Bayram Catak, Feyza;
    • Yorgun Altunbas, Melek;
    • Babayeva, Royala;
    • Bal, Sevgi Kostel;
    • Eltan, Sevgi Bilgic;
    • Yalcin Gungoren, Ezgi;
    • Esen, Fehim;
    • Zemheri, Itir Ebru;
    • Karakoc-Aydiner, Elif;
    • Ozen, Ahmet;
    • Caki-Kilic, Suar;
    • Kraakman, Michael J.;
    • Boztug, Kaan;
    • Baris, Safa
    Publication type:
    Article
    40
    41

    Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01627-z
    By:
    • Riestra, Maria Rodrigo;
    • Pillay, Bethany A.;
    • Willemsen, Mathijs;
    • Kienapfel, Verena;
    • Ehlers, Lisa;
    • Delafontaine, Selket;
    • Pinton, Antoine;
    • Wouters, Marjon;
    • Hombrouck, Anneleen;
    • Sauer, Kate;
    • Bossuyt, Xavier;
    • Voet, Arnout;
    • Soenen, Stefaan J.;
    • Conde, Cecilia Dominguez;
    • Bucciol, Giorgia;
    • Boztug, Kaan;
    • Humblet-Baron, Stephanie;
    • Touzart, Aurore;
    • Rieux-Laucat, Frédéric;
    • Notarangelo, Luigi D.
    Publication type:
    Article
    42

    Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 7, p. 1563, doi. 10.1007/s10875-021-01062-y
    By:
    • Bayram, Ozlem;
    • Haskologlu, Sule;
    • Bayrakoğlu, Deniz;
    • Bal, Sevgi Kostel;
    • Islamoglu, Candan;
    • Cipe, Funda Erol;
    • Kendirli, Tanil;
    • Kursun, Nazmiye;
    • Guner, Sukru Nail;
    • Yildiran, Alisan;
    • Bozdogan, Gunseli;
    • Yuksek, Mutlu;
    • Reisli, Ismail;
    • Dalva, Klara;
    • Aytekin, Caner;
    • Boztug, Kaan;
    • Dogu, Figen;
    • Ikinciogullari, Aydan
    Publication type:
    Article
    43
    44

    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.

    Published in:
    2020
    By:
    • Göschl, Lisa;
    • Winkler, Stefan;
    • Dmytrus, Jasmin;
    • Heredia, Raul Jimenez;
    • Lagler, Heimo;
    • Ramharter, Michael;
    • Scheinecker, Clemens;
    • Bonelli, Michael;
    • Schmetterer, Klaus;
    • Pickl, Winfried F.;
    • Grabmeier-Pfistershammer, Katharina;
    • Hershfield, Michael S.;
    • Boztug, Kaan;
    • Förster-Waldl, Elisabeth;
    • Gualdoni, Guido A.
    Publication type:
    Letter
    45

    A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

    Published in:
    Journal of Clinical Immunology, 2019, v. 39, n. 7, p. 726, doi. 10.1007/s10875-019-00677-6
    By:
    • Cagdas, Deniz;
    • Halaçlı, Sevil Oskay;
    • Tan, Çağman;
    • Lo, Bernice;
    • Çetinkaya, Pınar Gür;
    • Esenboğa, Saliha;
    • Karaatmaca, Betül;
    • Matthews, Helen;
    • Balcı-Hayta, Burcu;
    • Arıkoğlu, Tuba;
    • Ezgü, Fatih;
    • Aladağ, Elifcan;
    • Saltık-Temizel, İnci N.;
    • Demir, Hülya;
    • Kuşkonmaz, Barış;
    • Okur, Visal;
    • Gümrük, Fatma;
    • Göker, Hakan;
    • Çetinkaya, Duygu;
    • Boztuğ, Kaan
    Publication type:
    Article
    46

    ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

    Published in:
    Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 484, doi. 10.1007/s10875-018-0496-9
    By:
    • Cagdas, Deniz;
    • Gur Cetinkaya, Pınar;
    • Karaatmaca, Betül;
    • Esenboga, Saliha;
    • Tan, Cagman;
    • Yılmaz, Togay;
    • Gümüş, Ersin;
    • Barış, Safa;
    • Kuşkonmaz, Barış;
    • Ozgur, Tuba Turul;
    • Bali, Pawan;
    • Santisteban, Ines;
    • Orhan, Diclehan;
    • Yüce, Aysel;
    • Cetinkaya, Duygu;
    • Boztug, Kaan;
    • Hershfield, Michael;
    • Sanal, Ozden;
    • Tezcan, İlhan
    Publication type:
    Article
    47
    48

    Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

    Published in:
    Journal of Clinical Immunology, 2017, v. 37, n. 8, p. 790, doi. 10.1007/s10875-017-0446-y
    By:
    • Kostel Bal, Sevgi;
    • Haskologlu, Sule;
    • Serwas, Nina;
    • Islamoglu, Candan;
    • Aytekin, Caner;
    • Kendirli, Tanil;
    • Kuloglu, Zarife;
    • Yavuz, Gulsan;
    • Dalgic, Buket;
    • Siklar, Zeynep;
    • Kansu, Aydan;
    • Ensari, Arzu;
    • Boztug, Kaan;
    • Dogu, Figen;
    • Ikinciogullari, Aydan
    Publication type:
    Article
    49
    50