Works by Boztug, Kaan

Results: 76

Transcriptional and epigenetic rewiring by the NUP98::KDM5A fusion oncoprotein directly activates CDK12.

Published in:

Nature Communications, 2025, v. 16, n. 1, p. 1, doi. 10.1038/s41467-025-59930-9

By:

Troester, Selina;
Eder, Thomas;
Wukowits, Nadja;
Piontek, Martin;
Fernández-Pernas, Pablo;
Schmoellerl, Johannes;
Haladik, Ben;
Manhart, Gabriele;
Allram, Melanie;
Maurer-Granofszky, Margarita;
Scheidegger, Nastassja;
Nebral, Karin;
Superti-Furga, Giulio;
Meisel, Roland;
Bornhauser, Beat;
Valent, Peter;
Dworzak, Michael N.;
Zuber, Johannes;
Boztug, Kaan;
Grebien, Florian

Publication type:

Article

TMC8 mutation in a Turkish family with epidermodysplasia verruciformis including laryngeal papilloma and recurrent skin carcinoma.

Published in:

Journal of Cosmetic Dermatology, 2022, v. 21, n. 5, p. 2263, doi. 10.1111/jocd.14393

By:

Esenboga, Saliha;
Cagdas, Deniz;
Alkanat, Nazli Eylem;
Güler Tezel, Gaye;
Ersoy Evans, Sibel;
Boztug, Kaan;
Tezcan, Ilhan

Publication type:

Article

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.

Published in:

Central European Journal of Immunology, 2019, v. 44, n. 3, p. 332, doi. 10.5114/ceji.2019.89613

By:

KUTLUĞ, ŞEYHAN;
BOZTUĞ, KAAN;
YILDIRAN, ALIŞAN

Publication type:

Article

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

The Phenotype and Treatment of WIP Deficiency: Literature Synopsis and Review of a Patient With Pre-transplant Serial Donor Lymphocyte Infusions to Eliminate CMV.

Published in:

Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.02554

By:

Schwinger, Wolfgang;
Urban, Christian;
Ulreich, Raphael;
Sperl, Daniela;
Karastaneva, Anna;
Strenger, Volker;
Lackner, Herwig;
Boztug, Kaan;
Albert, Michael H.;
Benesch, Martin;
Seidel, Markus G.

Publication type:

Article

CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and substantial Proteome Alterations in Neutrophils.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00588

By:

Serwas, Nina K.;
Huemer, Jakob;
Dieckmann, Régis;
Mejstrikova, Ester;
Garncarz, Wojciech;
Litzman, Jiri;
Hoeger, Birgit;
Zapletal, Ondrej;
Janda, Ales;
Bennett, Keiryn L.;
Kain, Renate;
Kerjaschky, Dontscho;
Boztug, Kaan

Publication type:

Article

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 2, p. 326, doi. 10.24953/turkjped.2020.02.022

By:

Çipe, Funda Erol;
Aydoğmuş, Çiğdem;
Baskın, Kübra;
Keskindemirci, Gonca;
Garncarz, Wojciech;
Boztuğ, Kaan

Publication type:

Article

Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection.

Published in:

British Journal of Dermatology, 2023, v. 188, n. 5, p. 684, doi. 10.1093/bjd/ljad021

By:

Strobl, Johanna;
Huber, Bettina;
Heredia, Raul Jimenez;
Kirnbauer, Reinhard;
Boztug, Kaan;
Stary, Georg

Publication type:

Article

Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1 -Deficient Long-term Survivor.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.869047

By:

Poyer, Fiona;
Jimenez Heredia, Raúl;
Novak, Wolfgang;
Zeitlhofer, Petra;
Nebral, Karin;
Dworzak, Michael N.;
Haas, Oskar A.;
Boztug, Kaan;
Kager, Leo

Publication type:

Article

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

CD70 Deficiency Associated With Chronic Epstein-Barr Virus Infection, Recurrent Airway Infections and Severe Gingivitis in a 24-Year-Old Woman.

Published in:

Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.01593

By:

Krüger, Renate;
Martin, Emmanuel;
Dmytrus, Jasmin;
Feiterna-Sperling, Cornelia;
Meisel, Christian;
Unterwalder, Nadine;
Kölsch, Uwe;
Wahn, Volker;
Hofmann, Jörg;
Korn, Paula;
Latour, Sylvain;
Boztug, Kaan;
von Bernuth, Horst

Publication type:

Article

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

T‐cell/histiocyte‐rich large B‐cell lymphoma in a patient with a novel frameshift MSH6 mutation.

Published in:

Pediatric Blood & Cancer, 2023, v. 70, n. 3, p. 1, doi. 10.1002/pbc.30008

By:

Cekic, Sukru;
Aydin, Firdevs;
Karali, Yasin;
Sevinir, Betül Berrin;
Canoz, Ozlem;
Boztug, Kaan;
Unal, Ekrem;
Kilic, Sara Sebnem

Publication type:

Article

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

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

ASCIA-P69: A NOVEL AICDA MUTATION IN A CASE OF AUTOSOMAL RECESSIVE HYPER-IGM SYNDROME, GROWTH HORMONE DEFICIENCY AND AUTOIMMUNITY.

Published in:

Internal Medicine Journal, 2016, v. 46, p. 26, doi. 10.1111/imj.69_13197

By:

Kashef, Sara;
Fazel, Ali;
Aleyasin, Soheila;
Harsini, Sara;
Karamizadeh, Zohreh;
Zoghi, Samaneh;
Flores, Stefanie Klaver;
Boztug, Kaan;
Rezaei, Nima

Publication type:

Article

Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.

Published in:

Clinical & Experimental Immunology, 2024, v. 215, n. 2, p. 160, doi. 10.1093/cei/uxad110

By:

Karaatmaca, Betul;
Cagdas, Deniz;
Esenboga, Saliha;
Erman, Baran;
Tan, Cagman;
Turul Ozgur, Tuba;
Boztug, Kaan;
van der Burg, Mirjam;
Sanal, Ozden;
Tezcan, Ilhan

Publication type:

Article

The phenotype-genotype relationship in severe congenital neutropenia patients.

Published in:

2012

By:

Barış, Safa;
Aydıner, Elif Karakoç;
Kıykım, Ayça;
Çağan, Havva Hasret;
Boztug, Kaan;
Barlan, Işıl

Publication type:

Journal Article

Doğuştan ağır nötropenide fenotip-genotip ilişkisi.

Published in:

Türk Pediatri Arşivi, 2012, v. 47, n. 4, p. 272, doi. 10.4274/tpa.822

By:

Barış, Safa;
Aydıner, Elif Karakoç;
Kıykım, Ayça;
Çağan, Havva Hasret;
Boztug, Kaan;
Barlan, Işıl

Publication type:

Article

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

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

PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages.

Published in:

Cardiovascular Research, 2014, v. 104, n. 3, p. 467, doi. 10.1093/cvr/cvu213

By:

Szilagyi, Katka;
Meijer, Alexander B.;
Neele, Annette E.;
Verkuijlen, Paul;
Leitges, Michael;
Dabernat, Sandrine;
Förster-Waldl, Elisabeth;
Boztug, Kaan;
Belot, Alexandre;
Kuijpers, Taco W.;
Kraal, Georg;
de Winther, Menno P. J.;
van den Berg, Timo K.

Publication type:

Article

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.

Published in:

Allergy, Asthma & Clinical Immunology, 2023, v. 19, n. 1, p. 1, doi. 10.1186/s13223-023-00804-4

By:

Moradian, Negar;
Zoghi, Samaneh;
Rayzan, Elham;
Seyedpour, Simin;
Jimenez Heredia, Raul;
Boztug, Kaan;
Rezaei, Nima

Publication type:

Article

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

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

Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features.

Published in:

Immunological Investigations, 2022, v. 51, n. 3, p. 558, doi. 10.1080/08820139.2020.1853153

By:

Süleyman, Merve;
Tan, Çağman;
Uner, Aysegul;
İnkaya, Çağkan;
Aytaç, Selin;
Büyükaşık, Yahya;
Boztug, Kaan;
Tezcan, İlhan;
Cagdas, Deniz

Publication type:

Article

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

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

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

A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.

Published in:

2023

By:

Rayzan, Elham;
Sadeghalvad, Mona;
Shahkarami, Sepideh;
Zoghi, Samaneh;
Aryan, Zahra;
Mahdaviani, Seyed Alireza;
Boztug, Kaan;
Rezaei, Nima

Publication type:

Case Study

Enflamatuar bağırsak hastalığı olan Türk çocuklarında interlökin-10 almaç gen mutasyon sıklığının ve klinik özelliklerinin belirlenmesi.

Published in:

Cocuk Sagligi ve Hastaliklari Dergisi, 2014, v. 57, n. 3, p. 163

By:

Beşer, Ömer Faruk;
Boztuğ, Kaan;
Kutlu, Tufan;
Çokuğraş, Fügen Çullu;
Erginöz, Ethem;
Erkan, Tülay

Publication type:

Article

Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease‐causing mutations.

Published in:

British Journal of Haematology, 2018, v. 182, n. 2, p. 251, doi. 10.1111/bjh.15389

By:

Kager, Leo;
Jimenez Heredia, Raúl;
Hirschmugl, Tatjana;
Dmytrus, Jasmin;
Krolo, Ana;
Müller, Heiko;
Bock, Christoph;
Zeitlhofer, Petra;
Dworzak, Michael;
Mann, Georg;
Holter, Wolfgang;
Haas, Oskar;
Boztug, Kaan

Publication type:

Article

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease--Molecular Mechanisms and Consequences.

Published in:

Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2017.01978

By:

Hoeger, Birgit;
Serwas, Nina Kathrin;
Boztug, Kaan

Publication type:

Article

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Published in:

Nucleic Acids Research, 2017, v. 45, n. W1, p. W567, doi. 10.1093/nar/gkx425

By:

Müller, Heiko;
Jimenez-Heredia, Raul;
Krolo, Ana;
Hirschmugl, Tatjana;
Dmytrus, Jasmin;
Boztug, Kaan;
Bock, Christoph

Publication type:

Article

Inflammatory Bowel Disease With Lethal Disease Course Caused by a Nonsense Mutation in BIRC4 Encoding X-Linked Inhibitor of Apoptosis Protein (XIAP).

Published in:

2016

By:

Beşer, Ömer F.;
Conde, Cecilia D.;
Kutlu, Tufan;
Çokuğraş, Fügen Çullu;
Boztuğ, Kaan;
Erkan, Tülay;
Çullu Çokuğraş, Fügen

Publication type:

journal article

Clinical Features of Interleukin 10 Receptor Gene Mutations in Children With Very Early-Onset Inflammatory Bowel Disease.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. 332, doi. 10.1097/MPG.0000000000000621

By:

Beser, Omer F.;
Conde, Cecilia Dominguez;
Serwas, Nina K.;
Cokugras, Fügen Cullu;
Kutlu, Tufan;
Boztug, Kaan;
Erkan, Tulay

Publication type:

Article

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Published in:

2016

By:

Karaca, Neslihan Edeer;
Aksu, Guzide;
Ulusoy, Ezgi;
Aksoylar, Serap;
Gozmen, Salih;
Genel, Ferah;
Akarcan, Sanem;
Gulez, Nesrin;
Hirschmugl, Tatjana;
Kansoy, Savas;
Boztug, Kaan;
Kutukculer, Necil

Publication type:

Case Study

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

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

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

A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation.

Published in:

Journal of Clinical Immunology, 2024, v. 44, n. 3, p. 1, doi. 10.1007/s10875-024-01675-z

By:

Erman, Baran;
Bal, Sevgi Köstel;
Aydoğmuş, Çiğdem;
Ersoy, Gizem Zengin;
Boztug, Kaan

Publication type:

Article

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

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

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

Published in:

Journal of Clinical Immunology, 2021, v. 41, n. 1, p. 59, doi. 10.1007/s10875-020-00878-4

By:

Yucel, Esra;
Karakus, Ibrahim Serhat;
Krolo, Ana;
Kiykim, Ayca;
Heredia, Raul Jimenez;
Tamay, Zeynep;
Cipe, Funda Erol;
Karakoc-Aydiner, Elif;
Ozen, Ahmet;
Karaman, Serap;
Boztug, Kaan;
Baris, Safa

Publication type:

Article

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

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

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

Novel Mutation in <italic>CECR1</italic> Leads to Deficiency of ADA2 with Associated Neutropenia.

Published in:

Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 273, doi. 10.1007/s10875-018-0487-x

By:

Cipe, Funda Erol;
Aydogmus, Cigdem;
Serwas, Nina K.;
Keskindemirci, Gonca;
Boztuğ, Kaan

Publication type:

Article

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

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 631, doi. 10.1007/s10875-016-0323-0

By:

Salzer, Elisabeth;
Santos-Valente, Elisangela;
Keller, Bärbel;
Warnatz, Klaus;
Boztug, Kaan

Publication type:

Article