Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing
Erman, B., Bilic, I., Hirschmugl, T., Salzer, E., Boztug, H., Sanal, Ö., Çağdaş Ayvaz, D., Tezcan, I., Boztug, K.
Published in Scandinavian journal of immunology (01.03.2017)
Published in Scandinavian journal of immunology (01.03.2017)
Get full text
Journal Article
MHC class II deficiency: Report of a novel mutation and special review
Farrokhi, S, Shabani, M, Aryan, Z, Zoghi, S, Krolo, A, Boztug, K, Rezaei, N
Published in Allergologia et immunopathologia (01.05.2018)
Published in Allergologia et immunopathologia (01.05.2018)
Get more information
Journal Article
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
Published in Allergologia et immunopathologia (01.11.2018)
Published in Allergologia et immunopathologia (01.11.2018)
Get more information
Journal Article
P1531: HETEROGENEITY OF DISEASE‐CAUSING GENOTYPES BETWEEN FAMILIES WITH HEREDITARY SPHEROCYTOSIS: A SINGLE‐CENTER COHORT STUDY
Jimenez Heredia, R., Kager, L., Zeitlhofer, P., Novak, W., Eder, S., Segarra Roca, A., Nebral, K., Haimel, M., Geyeregger, R., Haas, O., Boztug, K.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
Get full text
Journal Article
PB2271: GERMLINE LOSS OF RHOG IDENTIFIES ITS ROLE AS AN ESSENTIAL REGULATOR OF HUMAN LYMPHOCYTE CYTOTOXICITY
Kalinichenko, A., Casoni, G. P., Dupré, L., Trotta, L., Huemer, J., Galgano, D., German, Y., Haladik, B., Pazmandi, J., Thian, M., Yüce Petronczki, Ö., Chiang, S. C., Taskinen, M., Hekkala, A., Kauppila, S., Lindgren, O., Tapiainen, T., Kraakman, M. J., Vettenranta, K., Lomakin, A. J., Saarela, J., Seppänen, M. R., Bryceson, Y. T., Boztug, K.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
Get full text
Journal Article
P1408: MONOALLELIC AND BIALLELIC GERMLINE MUTATIONS AFFECTING THE TRANSCRIPTION FACTOR HELIOS CAUSE PLEIOTROPIC DEFECTS OF IMMUNITY
Mayr, D., Shahin, T., Shoeb, M., Kuehn, H. S., Hoeger, B., Giuliani, S., Gawriyski, L., Yüce Petronczki, Ö., Hadjadj, J., Köstel Bal, S., Zoghi, S., Haimel, M., Jimenez Heredia, R., Boutboul, D., Triebwasser, M., Rialland‐Battisti, F., Tangye, S., Fleisher, T., Rezaei, N., Romberg, N., Latour, S., Varjosalo, M., Halbritter, F., Rieux‐Laucat, F., Castanon, I., Rosenzweig, S., Boztug, K.
Published in HemaSphere (23.06.2022)
Published in HemaSphere (23.06.2022)
Get full text
Journal Article
INFLAMMATORY BOWEL DISEASE-LIKE PHENOTYPE IN A YOUNG GIRL WITH PROLIDASE DEFICIENCY: A NEW SPECTRUM OF CLINICAL MANIFESTATION
Kuloglu, Z, Kansu, A, Serwas, N, Demir, A, Yaman, A, Ensari, A, Boztug, K
Published in Genetic counseling (01.01.2015)
Get full text
Published in Genetic counseling (01.01.2015)
Journal Article
Novel AICDA mutation in a case of autosomal recessive hyper-IgM syndrome, growth hormone deficiency and autoimmunity
Fazel, A, Kashef, S, Aleyasin, S, Harsini, S, Karamizadeh, Z, Zoghi, S, Flores, S K, Boztug, K, Rezaei, N
Published in Allergologia et immunopathologia (01.01.2017)
Published in Allergologia et immunopathologia (01.01.2017)
Get more information
Journal Article
Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome
Boztug, K, Germeshausen, M, Avedillo Díez, I, Gulacsy, V, Diestelhorst, J, Ballmaier, M, Welte, K, Maródi, L, Chernyshova, LI, Klein, C
Published in Clinical genetics (01.07.2008)
Published in Clinical genetics (01.07.2008)
Get full text
Journal Article
Interferon-Independent, Human Immunodeficiency Virus Type 1 gp120-Mediated Induction of CXCL10/IP-10 Gene Expression by Astrocytes In Vivo and In Vitro
Asensio, V C, Maier, J, Milner, R, Boztug, K, Kincaid, C, Moulard, M, Phillipson, C, Lindsley, K, Krucker, T, Fox, H S, Campbell, I L
Published in Journal of Virology (01.08.2001)
Published in Journal of Virology (01.08.2001)
Get full text
Journal Article
Large granular lymphocyte proliferation and revertant mosaicism: two rare events in a Wiskott-Aldrich syndrome patient
Boztug, K, Baumann, U, Ballmaier, M, Webster, D, Sandrock, I, Jacobs, R, Lion, T, Preuner, S, Germeshausen, M, Hansen, G, Welte, K, Klein, C
Published in Haematologica (Roma) (01.03.2007)
Published in Haematologica (Roma) (01.03.2007)
Get full text
Journal Article
Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity
Kumar, V, Becker, T, Jansen, S, van Barneveld, A, Boztug, K, Wölfl, S, Tümmler, B, Stanke, F
Published in Genes and immunity (01.12.2008)
Published in Genes and immunity (01.12.2008)
Get full text
Journal Article
Early-onset inflammatory bowel disease caused by mutant IL10 receptor
Glocker, E O, Kotlarz, D, Boztug, K, Gertz, E M, Schäffer, A A, Noyan, F, Perro, M, Diestelhorst, J, Allroth, A, Murugan, D, Hätscher, N, Pfeifer, D, Sykora, K W, Sauer, M, Kreipe, H, Lacher, M, Nustede, R, Woellner, C, Baumann, U, Salzer, U, Koletzko, S, Shah, N, Segal, A W, Sauerbrey, A, Buderus, S, Snapper, S B, Grimbacher, B, Klein, C
Published in Journal of translational medicine (25.11.2010)
Published in Journal of translational medicine (25.11.2010)
Get full text
Journal Article
A Syndrome with Congenital Neutropenia and Mutations in G6PC3
Published in The New England journal of medicine
(28.04.2011)
Get full text
Journal Article
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity
Willmann, Katharina L, Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Conde, Cecilia Domínguez, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P, Vladimer, Gregory I, Haskoloğlu, Sule, Bolkent, Musa Gökalp, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F, van Zelm, Menno C, Eibel, Hermann, Orange, Jordan S, Ikincioğulları, Aydan, Boztuğ, Kaan
Published in Nature communications (19.11.2014)
Published in Nature communications (19.11.2014)
Get full text
Journal Article
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
Salzer, Elisabeth, Daschkey, Svenja, Choo, Sharon, Gombert, Michael, Santos-Valente, Elisangela, Ginzel, Sebastian, Schwendinger, Martina, Haas, Oskar A, Fritsch, Gerhard, Pickl, Winfried F, Förster-Waldl, Elisabeth, Borkhardt, Arndt, Boztug, Kaan, Bienemann, Kirsten, Seidel, Markus G
Published in Haematologica (Roma) (01.03.2013)
Published in Haematologica (Roma) (01.03.2013)
Get full text
Journal Article
Impaired respiratory burst contributes to infections in PKCδ-deficient patients
Neehus, Anna-Lena, Moriya, Kunihiko, Nieto-Patlán, Alejandro, Le Voyer, Tom, Lévy, Romain, Özen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Yildiran, Alisan, Altundag, Engin, Roynard, Manon, Haake, Kathrin, Migaud, Mélanie, Dorgham, Karim, Gorochov, Guy, Abel, Laurent, Lachmann, Nico, Dogu, Figen, Haskologlu, Sule, İnce, Erdal, El-Benna, Jamel, Uzel, Gulbu, Kiykim, Ayca, Boztug, Kaan, Roderick, Marion R, Shahrooei, Mohammad, Brogan, Paul A, Abolhassani, Hassan, Hancioglu, Gonca, Parvaneh, Nima, Belot, Alexandre, Ikinciogullari, Aydan, Casanova, Jean-Laurent, Puel, Anne, Bustamante, Jacinta
Published in The Journal of experimental medicine (06.09.2021)
Published in The Journal of experimental medicine (06.09.2021)
Get full text
Journal Article
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
Dahl, Niklas, Appaswamy, Giridharan, Schwinzer, Beate, Melin, Malin, Henter, Jan-Inge, Rathinam, Chozhavendan, Germeshausen, Manuela, Fadeel, Bengt, Bohn, Georg, Zeidler, Cornelia, Welte, Karl, Rezaei, Nima, Boztug, Kaan, Grimbacher, Bodo, Sandrock, Inga, Palmblad, Jan, Klein, Christoph, Schäffer, Alejandro A, Grudzien, Magda, Carlsson, Göran
Published in Nature genetics (01.01.2007)
Published in Nature genetics (01.01.2007)
Get full text
Journal Article