Search Results - "Baris, Safa"

Primary Immune Regulatory Disorders and Targeted Therapies by Kolukısa, Burcu, Barış, Safa

“…Primary immune regulatory disorders (PIRDs) are a group of diseases belonging to inborn errors of immunity. They usually exhibit lymphoproliferation,…”
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A regulatory T cell Notch4–GDF15 axis licenses tissue inflammation in asthma by Harb, Hani, Stephen-Victor, Emmanuel, Crestani, Elena, Benamar, Mehdi, Massoud, Amir, Cui, Ye, Charbonnier, Louis-Marie, Arbag, Sena, Baris, Safa, Cunnigham, Amparito, Leyva-Castillo, Juan Manuel, Geha, Raif S., Mousavi, Amirhosein J., Guennewig, Boris, Schmitz-Abe, Klaus, Sioutas, Constantinos, Phipatanakul, Wanda, Chatila, Talal A.

“…Elucidating the mechanisms that sustain asthmatic inflammation is critical for precision therapies. We found that interleukin-6- and STAT3 transcription…”
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Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation by Alroqi, Fayhan J., Charbonnier, Louis-Marie, Baris, Safa, Kiykim, Ayca, Chou, Janet, Platt, Craig D., Algassim, Abdulrahman, Keles, Sevgi, Al Saud, Bandar K., Alkuraya, Fowzan S., Jordan, Michael, Geha, Raif S., Chatila, Talal A.

“…LPS-responsive beige-like anchor protein (LRBA) and cytotoxic T lymphocyte–associated antigen 4 (CTLA4) deficiencies give rise to overlapping phenotypes of…”
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Adverse COVID‐19 outcomes in immune deficiencies: Inequality exists between subclasses by Karakoc Aydiner, Elif, Bilgic Eltan, Sevgi, Babayeva, Royale, Aydiner, Omer, Kepenekli, Eda, Kolukisa, Burcu, Sefer, Asena Pinar, Yalcin Gungoren, Ezgi, Karabiber, Esra, Yucel, Esra Ozek, Ozdemir, Oner, Kiykim, Ayca, Artac, Hasibe, Yakici, Nalan, Yalcin, Koray, Cokugras, Haluk, Celkan, Tulin Tiraje, Orhan, Fazil, Yesilipek, Mehmet Akif, Baris, Safa, Ozen, Ahmet

“…Background Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In…”
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Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation by Kiykim, Ayca, Charbonnier, Louis Marie, Akcay, Arzu, Karakoc-Aydiner, Elif, Ozen, Ahmet, Ozturk, Gulyuz, Chatila, Talal A., Baris, Safa

“…Purpose Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging…”
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Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6 by Baris, Safa, Benamar, Mehdi, Chen, Qian, Catak, Mehmet Cihangir, Martínez-Blanco, Mónica, Wang, Muyun, Fong, Jason, Massaad, Michel J., Sefer, Asena Pinar, Kara, Altan, Babayeva, Royala, Eltan, Sevgi Bilgic, Yucelten, Ayse Deniz, Bozkurtlar, Emine, Cinel, Leyla, Karakoc-Aydiner, Elif, Zheng, Yumei, Wu, Hao, Ozen, Ahmet, Schmitz-Abe, Klaus, Chatila, Talal A.

“…[Display omitted] Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of…”
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Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency by Shafer, Samantha, Yao, Yikun, Comrie, William, Cook, Sarah, Zhang, Yu, Yesil, Gözde, Karakoç-Aydiner, Elif, Baris, Safa, Cokugras, Haluk, Aydemir, Sezin, Kiykim, Ayca, Ozen, Ahmet, Lenardo, Michael

“…TRAF3 interacting protein 2 (TRAF3IP2) (Act1) is an adapter protein that interacts with IL-17R via its similar expression to fibroblast growth factor genes and…”
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CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis by 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

“…CD55 prevents convertase enzyme formation in the complement cascade, acting as a brake on complement activation. Inactivating mutations in CD55 result in…”
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Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations by Zemmour, David, Charbonnier, Louis-Marie, Leon, Juliette, Six, Emmanuelle, Keles, Sevgi, Delville, Marianne, Benamar, Mehdi, Baris, Safa, Zuber, Julien, Chen, Karin, Neven, Benedicte, Garcia-Lloret, Maria I., Ruemmele, Frank M., Brugnara, Carlo, Cerf-Bensussan, Nadine, Rieux-Laucat, Frederic, Cavazzana, Marina, André, Isabelle, Chatila, Talal A., Mathis, Diane, Benoist, Christophe

“…FOXP3 deficiency in mice and in patients with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome results in fatal autoimmunity by…”
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Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation by 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

“…Purpose Patients with heterozygous gain-of-function (GOF) mutations in STAT1 frequently exhibit chronic mucocutaneous candidiasis (CMC), immunodeficiency and…”
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Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency by Kiykim, Ayca, Ogulur, Ismail, Dursun, Esra, Charbonnier, Louis Marie, Nain, Ercan, Cekic, Sukru, Dogruel, Dilek, Karaca, Neslihan Edeer, Cogurlu, Mujde Tuba, Bilir, Ozlem Arman, Cansever, Murat, Kapakli, Hasan, Baser, Dilek, Kasap, Nurhan, Kutlug, Seyhan, Altintas, Derya Ufuk, Al-Shaibi, Ahmad, Agrebi, Nourhen, Kara, Manolya, Guven, Ayla, Somer, Ayper, Aydogmus, Cigdem, Ayaz, Nuray Aktay, Metin, Ayse, Aydogan, Metin, Uncuoglu, Aysen, Patiroglu, Turkan, Yildiran, Alisan, Guner, Sukru Nail, Keles, Sevgi, Reisli, Ismail, Aksu, Guzide, Kutukculer, Necil, Kilic, Sara S., Yilmaz, Mustafa, Karakoc-Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Chatila, Talal A., Baris, Safa

“…LPS-responsive beige-like anchor (LRBA) deficiency presents with susceptibility to infections, autoimmunity, and lymphoproliferation. The long-term efficacy of…”
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Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease by 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.

“…Complement hyperactivation, angiopathic thrombosis and protein-losing enteropathy (CHAPLE disease) is a lethal disease caused by genetic loss of the complement…”
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Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency by Kolukisa, Burcu, Baser, Dilek, Akcam, Bengu, Danielson, Jeffrey, Bilgic Eltan, Sevgi, Haliloglu, Yesim, Sefer, Asena Pinar, Babayeva, Royale, Akgun, Gamze, Charbonnier, Louis‐Marie, Schmitz‐Abe, Klaus, Kendir Demirkol, Yasemin, Zhang, Yu, Gonzaga‐Jauregui, Claudia, Jimenez Heredia, Raul, Kasap, Nurhan, Kiykim, Ayca, Ozek Yucel, Esra, Gok, Veysel, Unal, Ekrem, Pac Kisaarslan, Aysenur, Nepesov, Serdar, Baysoy, Gokhan, Onal, Zerrin, Yesil, Gozde, Celkan, Tulin Tiraje, Cokugras, Haluk, Camcioglu, Yildiz, Eken, Ahmet, Boztug, Kaan, Lo, Bernice, Karakoc‐Aydiner, Elif, Su, Helen C., Ozen, Ahmet, Chatila, Talal A., Baris, Safa

“…Background Biallelic loss‐of‐function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and…”
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Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis 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

“…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…”
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Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study by Ozen, Ahmet, Chongsrisawat, Voranush, Sefer, Asena Pinar, Kolukisa, Burcu, Jalbert, Jessica J, Meagher, Karoline A, Brackin, Taylor, Feldman, Hagit Baris, Baris, Safa, Karakoc-Aydiner, Elif, Ergelen, Rabia, Fuss, Ivan J, Moorman, Heather, Suratannon, Narissara, Suphapeetiporn, Kanya, Perlee, Lorah, Harari, Olivier A, Yancopoulos, George D, Lenardo, Michael J, Miller, Jutta L., Eshach Adiv, Orly, Bilgic Eltan, Sevgi, Yorgun Altunbas, Melek, Magliocco, Mary, Matthews, Helen, Marciano, Beatriz E., Chatchatee, Pantipa, Trbovic, Caryn F., Burczynski, Michael E., Chaudhari, Umesh, Usta, Yusuf, Altuntaş, Cansu, Yavuz, Sibel, Baştürk, Ahmet, Demirbaş Ar, Fatma, Topal, Erdem, Kalaycı, Ayhan Gazi, Weerapakorn, Wanlapa, Calabi Martínez, Ana Andrea, Bottero, Adriana

“…CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is an ultra-rare genetic disorder…”
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DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation by Jabara, Haifa H, McDonald, Douglas R, Janssen, Erin, Massaad, Michel J, Ramesh, Narayanaswamy, Borzutzky, Arturo, Rauter, Ingrid, Benson, Halli, Schneider, Lynda, Baxi, Sachin, Recher, Mike, Notarangelo, Luigi D, Wakim, Rima, Dbaibo, Ghassan, Dasouki, Majed, Al-Herz, Waleed, Barlan, Isil, Baris, Safa, Kutukculer, Necil, Ochs, Hans D, Plebani, Alessandro, Kanariou, Maria, Lefranc, Gerard, Reisli, Ismail, Fitzgerald, Katherine A, Golenbock, Douglas, Manis, John, Keles, Sevgi, Ceja, Reuben, Chatila, Talal A, Geha, Raif S

“…Dock8 deficiency leads to defects in humoral immunity. Geha and colleagues show that Dock88 interacts with MyD88 to bridge TLR9 signaling to the Src-Syk-STAT3…”
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Immune system defects in DiGeorge syndrome and association with clinical course by Nain, Ercan, Kiykim, Ayca, Ogulur, Ismail, Kasap, Nurhan, Karakoc‐Aydiner, Elif, Ozen, Ahmet, Baris, Safa

“…We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4+T and…”
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Comparing the levels of CTLA‐4‐dependent biological defects in patients with LRBA deficiency and CTLA‐4 insufficiency by Catak, Mehmet C., Akcam, Bengu, Bilgic Eltan, Sevgi, Babayeva, Royala, Karakus, Ibrahim S., Akgun, Gamze, Baser, Dilek, Bulutoglu, Alper, Bayram, Feyza, Kasap, Nurhan, Kiykim, Ayca, Hancioglu, Gonca, Kokcu Karadag, Sefika I., kendir Demirkol, Yasemin, Ozen, Selime, Cekic, Sukru, Ozcan, Dilek, Edeer Karaca, Neslihan, Sasihuseyinoglu, Ayse S., Cansever, Murat, Ozek Yucel, Esra, Tamay, Zeynep, Altintas, Derya U., Aydogmus, Cigdem, Celmeli, Fatih, Cokugras, Haluk, Gulez, Nesrin, Genel, Ferah, Metin, Ayse, Guner, Sukru N., Kutukculer, Necil, Keles, Sevgi, Reisli, Ismail, Kilic, Sara S., Yildiran, Alisan, Karakoc‐Aydiner, Elif, Lo, Bernice, Ozen, Ahmet, Baris, Safa

“…Background Lipopolysaccharide‐responsive beige‐like anchor protein (LRBA) deficiency and cytotoxic T‐lymphocyte protein‐4 (CTLA‐4) insufficiency are recently…”
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A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells by Sefer, Asena Pınar, Charbonnier, Louis Marie, Kasap, Nurhan, Akcam, Bengu, Demirkol, Yasemin Kendir, Eltan, Sevgi Bilgic, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa

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

“…THOC6 variants are the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 is critical for mammalian Transcription Export…”
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