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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis
Author / Creator: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
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-01, Vol.41 (1), p.59-65
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The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency
Author / Creator:Baris, Hatice Ezgi ; Kiykim, Ayca ; Nain, Ercan ; Ozen, Ahmet Oguzhan ; Karakoc Aydiner, Elif ; Baris, Safa
Publisher:Turkey: Aves Yayincilik Ltd. STI
Journal title:Turk Pediatri Arsivi, 2016-12, Vol.51 (4), p.186-192
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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis
Author / Creator:Ozen, Ahmet ; Comrie, William A ; Ardy, Rico C ; Domínguez Conde, Cecilia ; Dalgic, Buket ; Beser, Ömer F ; Morawski, Aaron R ; Karakoc-Aydiner, Elif ; Tutar, Engin ; Baris, Safa ; Ozcay, Figen ; Serwas, Nina K ; Zhang, Yu ; Matthews, Helen F ; Pittaluga, Stefania ; Folio, Les R ; Unlusoy Aksu, Aysel ; McElwee, Joshua J ; Krolo, Ana ; Kiykim, Ayca ; Baris, Zeren ; Gulsan, Meltem ; Ogulur, Ismail ; Snapper, Scott B ; Houwen, Roderick H.J ; Leavis, Helen L ; Ertem, Deniz ; Kain, Renate ; Sari, Sinan ; Erkan, Tülay ; Su, Helen C ; Boztug, Kaan ; Lenardo, Michael J
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2017-07, Vol.377 (1), p.52-61
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Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation
Author / Creator:Kayaoglu, Basak ; Kasap, Nurhan ; Yilmaz, Naz Surucu ; Charbonnier, Louis Marie ; Geckin, Busranur ; Akcay, Arzu ; Eltan, Sevgi Bilgic ; Ozturk, Gulyuz ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Chatila, Talal A. ; Gursel, Mayda ; Baris, Safa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-05, Vol.41 (4), p.769-779
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Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease
Author / Creator:Ozen, Ahmet ; Kasap, Nurhan ; Vujkovic-Cvijin, Ivan ; Apps, Richard ; Cheung, Foo ; Karakoc-Aydiner, Elif ; Akkelle, Bilge ; Sari, Sinan ; Tutar, Engin ; Ozcay, Figen ; Uygun, Dilara Kocacik ; Islek, Ali ; Akgun, Gamze ; Selcuk, Merve ; Sezer, Oya Balci ; Zhang, Yu ; Kutluk, Gunsel ; Topal, Erdem ; Sayar, Ersin ; Celikel, Cigdem ; Houwen, Roderick H. J. ; Bingol, Aysen ; Ogulur, Ismail ; Eltan, Sevgi Bilgic ; Snow, Andrew L. ; Lake, Camille ; Fantoni, Giovanna ; Alba, Camille ; Sellers, Brian ; Chauvin, Samuel D. ; Dalgard, Clifton L. ; Harari, Olivier ; Ni, Yan G. ; Wang, Ming-Dauh ; Devalaraja-Narashimha, Kishor ; Subramanian, Poorani ; Ergelen, Rabia ; Artan, Reha ; Guner, Sukru Nail ; Dalgic, Buket ; Tsang, John ; Belkaid, Yasmine ; Ertem, Deniz ; Baris, Safa ; Lenardo, Michael J.
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2021-02, Vol.22 (2), p.128-139
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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome
Author / Creator:Werren, Elizabeth A. ; LaForce, Geneva R. ; Srivastava, Anshika ; Perillo, Delia R. ; Li, Shaokun ; Johnson, Katherine ; Baris, Safa ; Berger, Brandon ; Regan, Samantha L. ; Pfennig, Christian D. ; de Munnik, Sonja ; Pfundt, Rolph ; Hebbar, Malavika ; Jimenez-Heredia, Raúl ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Dmytrus, Jasmin ; Krolo, Ana ; Corning, Ken ; Prijoles, E. J. ; Louie, Raymond J. ; Lebel, Robert Roger ; Le, Thuy-Linh ; Amiel, Jeanne ; Gordon, Christopher T. ; Boztug, Kaan ; Girisha, Katta M. ; Shukla, Anju ; Bielas, Stephanie L. ; Schaffer, Ashleigh E.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-02, Vol.15 (1), p.1640-1640, Article 1640
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A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells
Author / Creator:Sefer, Asena Pınar ; Charbonnier, Louis Marie ; Kasap, Nurhan ; Akcam, Bengu ; Demirkol, Yasemin Kendir ; Eltan, Sevgi Bilgic ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Baris, Safa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-01, Vol.41 (1), p.251-255
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ArticlesPeer ReviewedFull Text
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia
Author / Creator:Bilgic Eltan, Sevgi ; Sefer, Asena Pınar ; Karakus, İbrahim Serhat ; Ozen, Ahmet ; Karakoc-Aydiner, Elif ; Baris, Safa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-07, Vol.41 (5), p.1106-1111
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Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency
Author / Creator:Sefer, Asena Pinar ; Abolhassani, Hassan ; Ober, Franziska ; Kayaoglu, Basak ; Bilgic Eltan, Sevgi ; Kara, Altan ; Erman, Baran ; Surucu Yilmaz, Naz ; Aydogmus, Cigdem ; Aydemir, Sezin ; Charbonnier, Louis-Marie ; Kolukisa, Burcu ; Azizi, Gholamreza ; Delavari, Samaneh ; Momen, Tooba ; Aliyeva, Simuzar ; Kendir Demirkol, Yasemin ; Tekin, Saban ; Kiykim, Ayca ; Baser, Omer Faruk ; Cokugras, Haluk ; Gursel, Mayda ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Krappmann, Daniel ; Chatila, Talal A. ; Rezaei, Nima ; Baris, Safa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-04, Vol.42 (3), p.634-652
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Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Author / Creator:Kubo, Satoshi ; Fritz, Jill M. ; Raquer-McKay, Hayley M. ; Kataria, Rhea ; Vujkovic-Cvijin, Ivan ; Al-Shaibi, Ahmad ; Yao, Yikun ; Zheng, Lixin ; Zou, Juan ; Waldman, Alex D. ; Jing, Xinyi ; Farley, Taylor K. ; Park, Ann Y. ; Oler, Andrew J. ; Charles, Adrian K. ; Makhlouf, Melanie ; AbouMoussa, Eman H. ; Hasnah, Reem ; Saraiva, Luis R. ; Ganesan, Sundar ; Al-Subaiey, Abdulrahman Ahmed ; Matthews, Helen ; Flano, Emilio ; Lee, Hyun Hee ; Freeman, Alexandra F. ; Sefer, Asena Pınar ; Sayar, Ersin ; Çakır, Erkan ; Karakoc-Aydiner, Elif ; Baris, Safa ; Belkaid, Yasmine ; Ozen, Ahmet ; Lo, Bernice ; Lenardo, Michael J.
Publisher:New York: Nature Publishing Group US
Journal title:Nature immunology, 2022-01, Vol.23 (1), p.75-85
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Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency
Author / Creator:Aydemir, Sezin ; Islek, Ali ; Nepesov, Serdar ; Yaman, Yontem ; Baysoy, Gokhan ; Beser, Omer Faruk ; Cokugras, Fugen Cullu ; Baris, Safa ; Karakoc-Aydiner, Elif ; Cokugras, Haluk ; Hubrack, Satanay Z. ; Kendir Demirkol, Yasemin ; Lo, Bernice ; Kiykim, Ayca ; Ozen, Ahmet
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-08, Vol.41 (6), p.1406-1410
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Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
Author / Creator:Surucu Yilmaz, Naz ; Bilgic Eltan, Sevgi ; Kayaoglu, Basak ; Geckin, Busranur ; Heredia, Raul Jimenez ; Sefer, Asena Pinar ; Kiykim, Ayca ; Nain, Ercan ; Kasap, Nurhan ; Dogru, Omer ; Yucelten, Ayse Deniz ; Cinel, Leyla ; Karasu, Gulsun ; Yesilipek, Akif ; Sozeri, Betul ; Kaya, Goksu Gokberk ; Yilmaz, Ismail Cem ; Baydemir, Ilayda ; Aydin, Yagmur ; Cansen Kahraman, Deniz ; Haimel, Matthias ; Boztug, Kaan ; Karakoc-Aydiner, Elif ; Gursel, Ihsan ; Ozen, Ahmet ; Baris, Safa ; Gursel, Mayda
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-04, Vol.42 (3), p.582-596
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Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency
Author / Creator:Gungoren, Ezgi Yalcin ; Meric, Zeynep ; Sefer, Asena Pinar ; Deveci Ozkan, Asuman ; Can, Salim ; Babayeva, Royala ; Kasap, Nurhan ; Nain, Ercan ; Ozek Yucel, Esra ; Kiykim, Ayca ; Bilgic-Eltan, Sevgi ; Yucelten, Ayse Deniz ; Karakoc-Aydiner, Elif ; Ozen, Ahmet ; Baris, Safa
Publisher:Turkey: Turkish Pediatrics Association
Journal title:Turkish archives of pediatrics, 2025-01, Vol.60 (1), p.48-56
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Single-Center Experience in Vaccination of Children in Special Risk Groups: A Multidisciplinary Institutional Consensus Protocol
Author / Creator:Barış, Hatice Ezgi ; Kepenekli, Eda ; Akbolat Sakar, Fikriye İrem ; Ütük, Burak ; Şahin, Pınar ; Ergenç, Zeynep ; Tokuç, Ayşe Gülnur ; Koç, Ahmet ; Karakoç-Aydıner, Elif ; Boran, Perran
Publisher:Turkish Pediatrics Association
Journal title:Turkish archives of pediatrics, 2023-09, Vol.58 (5), p.531-538
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Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
Author / Creator:Baris, Safa ; Alroqi, Fayhan ; Kiykim, Ayca ; Karakoc-Aydiner, Elif ; Ogulur, Ismail ; Ozen, Ahmet ; Charbonnier, Louis-Marie ; Bakır, Mustafa ; Boztug, Kaan ; Chatila, Talal A. ; Barlan, Isil B.
Journal title:Journal of clinical immunology, 2016-10, Vol.36 (7), p.641-648
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House Dust Mites Confer a Distinct Immunological Feature among Dermatitis
Author / Creator:Baris, Safa ; Ozen, Ahmet ; Akdeniz, Tuba ; Karakoc-Aydiner, Elif ; Aydin, Ovgu ; Ercan, Hulya ; Ogulur, Ismail ; Camcioglu, Yildiz ; Cengizlier, Reha ; Demirkesen, Cuyan ; Yucelten, Deniz ; Demirel, Gulderen ; Barlan, Isil B
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Iranian journal of allergy, asthma, and immunology, 2016-08, Vol.15 (4), p.264-264
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The New Formulations of Immunoglobulin Replacement Therapies and Future Aspects
Author / Creator:Karakoc-Aydiner, Elif
Publisher:Istambul: Galenos Yayinevi Tic. Ltd
Journal title:Turkish journal of immunology : the official journal of the Turkish Society of Immunology, 2024-04, Vol.12 (S1), p.83-87
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Early-onset neurolupus: A challenge for pediatricians
Author / Creator:BARIŞ, Safa ; KARAKOÇ-AYDINER, Elif ; ÖZEN, Ahmet ; KAÇMAZ, Melissa ; NAMAR, Medya ; YILDIZ, Nurdan ; Dilşat TÜRKDOĞAN ; BARLAN, İşıl
Publisher:Istanbul: Marmara University
Journal title:Marmara Medical Journal, 2015-01, Vol.28 (2), p.105
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Lymphocyte proliferation in common variable immunodeficiency (CVID) patients by carboxyfluorescein succinimidyl ester (CFSE)
Author / Creator:Izgi, Aysegül ; Akkoç, Tunç ; Ogülür, Ismail ; Tevetoglu, Ayzer ; Aydiner, Elif Karakoç ; Baris, Safa ; Bahçeciler, Nerin ; Barlan, Isil
Publisher:Istanbul: Marmara University
Journal title:Clinical and experimental health sciences (Online), 2011-09, Vol.1 (3), p.171
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Hereditary Angioedema: Diagnosis, Management, Current State of Art and Advances: Hereditary Angioedema: diagnosis, management, current State of art and advances
Author / Creator:Karabiber, Esra ; Karakoç Aydıner, Elif
Publisher:Galenos Publishing House
Journal title:Journal of pediatric academy, 2022-08, Vol.3 (2), p.37-46
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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis

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The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency

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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis

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Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation

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Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease

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TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

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A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells

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Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia

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Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency

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Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

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Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency

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Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency

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Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

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Single-Center Experience in Vaccination of Children in Special Risk Groups: A Multidisciplinary Institutional Consensus Protocol

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

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House Dust Mites Confer a Distinct Immunological Feature among Dermatitis

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The New Formulations of Immunoglobulin Replacement Therapies and Future Aspects

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Early-onset neurolupus: A challenge for pediatricians

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Lymphocyte proliferation in common variable immunodeficiency (CVID) patients by carboxyfluorescein succinimidyl ester (CFSE)

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Hereditary Angioedema: Diagnosis, Management, Current State of Art and Advances: Hereditary Angioedema: diagnosis, management, current State of art and advances

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