Browsing by Author "Ozen, Ahmet"
Now showing items 1-7 of 7
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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
Ghosh, Sujal; Bal, Sevgi Köstel; Edwards, Emily S J; Pillay, Bethany; Jimenez-Heredia, Raúl; Rao, Geetha; Erol Cipe, Funda; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A; Zhang, Yu; Oler, Andrew J; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya Kumar; Hauck, Fabian; Hoepelman, Andy; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krüger, Renate; Meisel, Roland; Oommen, Prasad Thomas; Morris, Emma C; Neven, Benedicte; Worth, Austen J J; Montfrans, Joris M van; Fraaij, Pieter; Choo, Sharon; Dogu, Figen; Davies, E Graham; Burns, Siobhan; Dueckers, Gregor; Becker, Ruy Perez; Bernuth, Horst von; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen; Pan-Hammarström, Qiang; Hammarström, Lennart; Lenardo, Michael J; Ma, Cindy S; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G; Lankester, Arjan C; Boztug, Kaan (2020)Biallelic mutations in the genes encoding CD27 or its ligand CD70 underlie inborn errors of immunity characterized predominantly by EBV-associated immune dysregulation, such as chronic viremia, severe infectious mononucleosis, ... -
Hematopoietic stem cell transplantation in CD40 ligand deficiency: a single-center experience
Uygun, Dilara Fatma Kocacik; Uygun, Vedat; Tezcan Karasu, Gulsun; Daloglu, Hayriye; Ozturkmen, Seda Irmak; Celmeli, Fatih; Torun, Selda Hancerli; Ozen, Ahmet; Baris, Safa; Aydiner, Elif Karakoc; Yalcin, Koray; Kilic, Suar Caki; Hazar, Volkan; Bingol, Aysen; Yesilipek, Akif (Wiley, 2020)Deficiency of the CD40L, expressed on the surface of T lymphocytes, is caused by mutations in the glycoproteinCD40L (CD154)gene. Resulting defective humoral and cellular responses cause a clinical presentation that includes ... -
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients
Eken, Ahmet; Cansever, Murat; Okus, Fatma Zehra; Erdem, Serife; Nain, Ercan; Azizoglu, Zehra Busra; Haliloglu, Yesim; Karakukcu, Musa; Ozcan, Alper; Devecioglu, Omer; Aksu, Guzide; Arikan Ayyildiz, Zeynep; Topal, Erdem; Karakoc Aydiner, Elif; Kiykim, Ayca; Metin, Ayse; Erol Cipe, Funda; Kaya, Aysenur; Artac, Hasibe; Reisli, Ismail; Guner, Sukru N.; Uygun, Vedat; Tezcan Karasu, Gulsun; Doenmez Altuntas, Hamiyet; Canatan, Halit; Oukka, Mohamed; Ozen, Ahmet; Chatila, Talal A.; Keles, Sevgi; Baris, Safa; Unal, Ekrem; Patiroglu, Turkan (Wiley, 2020)BackgroundDedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Firtina, Sinem; Ng, Yuk Yin; Ng, Ozden Hatirnaz; Kiykim, Ayca; Aydiner, Elif; Nepesov, Serdar; Camcioglu, Yildiz; Sayar, Esra H.; Reisli, Ismail; Torun, Selda H.; Cogurlu, Tuba; Uygun, Dilara; Simsek, Isil E.; Kaya, Aysenur; Erol Cipe, Funda; Cagdas, Deniz; Yucel, Esra; Cekic, Sukru; Uygun, Vedat; Baris, Safa; Ozen, Ahmet; Ozbek, Ugur; Sayitoglu, Muge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
A novel foxn1 variant is identified in two siblings with nude severe combined immunodeficiency
Firtina, Sinem; Erol Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayca; Ng, Ozden Hatirnaz; Sudutan, Tugce; Aydogmus, Cigdem; Baris, Safa; Ozturk, Gulyuz; Aydiner, Elif; Ozen, Ahmet; Sayitoglu, Muge (Springer/Plenum Publishers, 2019)Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies (PIDs) caused by gene variants that lead to a failure of functional T cell development, with or without accompanying defects ... -
Novel frameshift autosomal recessive loss-of-function mutation in SMARCD2 encoding a chromatin remodeling factor mediates granulopoiesis
Yucel, Esra Ozek; Karakus, Ibrahim Serhat; Krolo, Ana; Kiykim, Ayca; Heredia, Raul Jimenez; Tamay, Zeynep; Erol Cipe, Funda; Karakoc-Aydiner, Elif; Ozen, Ahmet; Karaman, Serap; Boztug, Kaan; Baris, Safa (2021)Purpose: Recently, a new form of congenital neutropenia that is caused by germline biallelic loss-of-function mutations in the SMARCD2 gene was described in four patients. Given the rarity of the condition, the clinical ... -
A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis
Kasap, Nurhan; Celik. Velat; Isik, Sakine; Cennetoglu, Pakize; Kiykim, Ayca; Bilgic Eltan, Sevgi; Nain, Ercan; Ogulur, Ismail; Baser, Dilek; Akkelle, Emre; Celiksoy, Mehmet Halil; Kocamis, Burcu; Erol Cipe, Funda; Yucelten, Ayse Deniz; Karakoc Aydiner, Elif; Ozen, Ahmet; Baris, Safa (Elsevier Inc., 2021)Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders ...
