Works by Boztug, Kaan

Results: 78

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

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

Next Generation Sequencing Based Gene Identification Techniques as a Diagnostic Approach For Patients with the CVID Phenotype.

Published in:

Asthma Allergy Immunology / Astim Allerji Immunoloji, 2025, v. 23, n. 1, p. 32, doi. 10.21911/aai.2025.728

By:

KOSTEL BAL, Sevgi;
SEVINC, Selin;
HASKOLOGLU, Sule;
ISLAMOGLU, Candan;
BASKIN, Kubra;
JIMENEZ HEREDIA, Raul;
FROHNE, Alexandra;
AYTEKIN, Caner;
BOZTUG, Kaan;
DOGU, Figen;
IKINCIOGULLARI, Aydan

Publication type:

Article

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

Evaluation of Patients with Combined Immunodeficiency: A Single Center Experience.

Published in:

Iranian Journal of Immunology, 2025, v. 22, n. 1, p. 1

By:

Firatoglu, Hatice;
Aytekin, Caner;
Dogu, Figen;
Bal, Sevgi Kostel;
Haskologlu, Şule;
Boztug, Kaan;
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

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

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

EBV‐positive B‐cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.

Published in:

Pediatric Blood & Cancer, 2018, v. 65, n. 9, p. 1, doi. 10.1002/pbc.27258

By:

Maas, Constantin;
Lüftinger, Roswitha;
Krois, Wilfried;
Matthes‐Martin, Susanne;
Bayer, Guenther;
Boztug, Kaan;
Metzelder, Martin

Publication type:

Article

EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.

Published in:

2018

By:

Maas, Constantin;
Lüftinger, Roswitha;
Krois, Wilfried;
Matthes-Martin, Susanne;
Bayer, Guenther;
Boztug, Kaan;
Metzelder, Martin

Publication type:

Case Study

Band 3 null<sup>VIENNA</sup> , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Published in:

2017

By:

Kager, Leo;
Bruce, Lesley J.;
Zeitlhofer, Petra;
Flatt, Joanna F.;
Maia, Tabita M.;
Ribeiro, M. Leticia;
Fahrner, Bernhard;
Fritsch, Gerhard;
Boztug, Kaan;
Haas, Oskar A.

Publication type:

journal article

Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia.

Published in:

2016

By:

Kager, Leo;
Minkov, Milen;
Zeitlhofer, Petra;
Fahrner, Bernhard;
Ratzinger, Franz;
Boztug, Kaan;
Dossenbach‐Glaninger, Astrid;
Haas, Oskar A.

Publication type:

journal article

ITK Deficiency: How can EBV be Treated Before Lymphoma?

Published in:

2015

By:

Cipe, Funda Erol;
Aydogmus, Cigdem;
Serwas, Nina Kathrin;
Tuğcu, Deniz;
Demirkaya, Metin;
Biçici, Ferhan Akıcı;
Hocaoglu, Arzu Babayigit;
Doğu, Figen;
Boztuğ, Kaan

Publication type:

Case Study

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

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes.

Published in:

HemaSphere, 2024, v. 8, n. 1, p. 1, doi. 10.1002/hem3.31

By:

Kager, Leo;
Jimenez-Heredia, Raúl;
Zeitlhofer, Petra;
Novak, Wolfgang;
Eder, Sebastian K.;
Segarra-Roca, Anna;
Frohne, Alexandra;
Nebral, Karin;
Haimel, Matthias;
Geyeregger, René;
Roetzer-Londgin, Katharina;
Haas, Oskar A.;
Boztug, Kaan

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

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

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

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

Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline.

Published in:

European Journal of Immunology, 2020, v. 50, n. 10, p. 1432, doi. 10.1002/eji.202048713

By:

Hanitsch, Leif;
Baumann, Ulrich;
Boztug, Kaan;
Burkhard‐Meier, Ulrike;
Fasshauer, Maria;
Habermehl, Pirmin;
Hauck, Fabian;
Klock, Gerd;
Liese, Johannes;
Meyer, Oliver;
Müller, Rainer;
Pachlopnik‐Schmid, Jana;
Pfeiffer‐Kascha, Dorothea;
Warnatz, Klaus;
Wehr, Claudia;
Wittke, Kirsten;
Niehues, Tim;
Bernuth, Horst

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

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Published in:

Nature Genetics, 2014, v. 46, n. 9, p. 1021, doi. 10.1038/ng.3069

By:

Boztug, Kaan;
Järvinen, Päivi M;
Salzer, Elisabeth;
Racek, Tomas;
Mönch, Sebastian;
Garncarz, Wojciech;
Gertz, E Michael;
Schäffer, Alejandro A;
Antonopoulos, Aristotelis;
Haslam, Stuart M;
Schieck, Lena;
Puchałka, Jacek;
Diestelhorst, Jana;
Appaswamy, Giridharan;
Lescoeur, Brigitte;
Giambruno, Roberto;
Bigenzahn, Johannes W;
Elling, Ulrich;
Pfeifer, Dietmar;
Conde, Cecilia Domínguez

Publication type:

Article

Jagunal homolog 1 is a critical regulator of neutrophil function in fungal host defense.

Published in:

Nature Genetics, 2014, v. 46, n. 9, p. 1028, doi. 10.1038/ng.3070

By:

Wirnsberger, Gerald;
Zwolanek, Florian;
Stadlmann, Johannes;
Tortola, Luigi;
Liu, Shang Wan;
Perlot, Thomas;
Järvinen, Päivi;
Dürnberger, Gerhard;
Kozieradzki, Ivona;
Sarao, Renu;
De Martino, Alba;
Boztug, Kaan;
Mechtler, Karl;
Kuchler, Karl;
Klein, Christoph;
Elling, Ulrich;
Penninger, Josef M

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

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

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

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

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

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

Distinct prognostic value of different portal hypertension-associated features in patients with primary biliary cholangitis.

Published in:

Journal of Gastroenterology, 2022, v. 57, n. 2, p. 99, doi. 10.1007/s00535-021-01839-3

By:

Burghart, Lukas;
Halilbasic, Emina;
Schwabl, Philipp;
Simbrunner, Benedikt;
Stättermayer, Albert Friedrich;
Petrenko, Oleksandr;
Scheiner, Bernhard;
Bauer, David;
Pinter, Matthias;
Boztug, Kaan;
Mandorfer, Mattias;
Trauner, Michael;
Reiberger, Thomas

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

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

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

Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 7, p. 641, doi. 10.1007/s10875-016-0312-3

By:

Baris, Safa;
Alroqi, Fayhan;
Kiykim, Ayca;
Karakoc-Aydiner, Elif;
Ogulur, Ismail;
Ozen, Ahmet;
Charbonnier, Louis-Marie;
Bakır, Mustafa;
Boztug, Kaan;
Chatila, Talal;
Barlan, Isil

Publication type:

Article

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

Published in:

Journal of Clinical Immunology, 2016, v. 36, n. 6, p. 533, doi. 10.1007/s10875-016-0306-1

By:

Boztug, Heidrun;
Hirschmugl, Tatjana;
Holter, Wolfgang;
Lakatos, Karoly;
Kager, Leo;
Trapin, Doris;
Pickl, Winfried;
Förster-Waldl, Elisabeth;
Boztug, Kaan

Publication type:

Article

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

Published in:

2016

By:

Seidel, Markus;
Boztug, Kaan;
Haas, Oskar

Publication type:

Letter