Search Results - "Barlan, Isil"

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

“…Purpose Loss and gain-of-function (GOF) mutations in human signal transducer and activator of transcription 1 (STAT1) lead to distinct phenotypes. Although…”
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International Consensus Document (ICON): Common Variable Immunodeficiency Disorders by Bonilla, Francisco A., MD, PhD, Barlan, Isil, MD, Chapel, Helen, MD, Costa-Carvalho, Beatriz T., MD, Cunningham-Rundles, Charlotte, MD, PhD, de la Morena, M. Teresa, MD, Espinosa-Rosales, Francisco J., MD, Hammarström, Lennart, MD, PhD, Nonoyama, Shigeaki, MD, Quinti, Isabella, MD, PhD, Routes, John M., MD, Tang, Mimi L.K., MD, PhD, Warnatz, Klaus, MD

“…The phenotype is very broad, ranging from only bacterial infections, to progression from a CVID-like condition to severe disease similar to a combined…”
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A novel approach in allergen-specific immunotherapy: Combination of sublingual and subcutaneous routes by Keles, Sevgi, MD, Karakoc-Aydiner, Elif, MD, Ozen, Ahmet, MD, Izgi, Ayse Gul, MS, Tevetoglu, Ayzer, MS, Akkoc, Tunc, PhD, Bahceciler, Nerin N., MD, Barlan, Isil, MD

“…Background Subcutaneous allergen-specific immunotherapy (SIT) has an early onset of action, whereas repeated injections and safety concerns have limited its…”
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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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Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome by Engelhardt, Karin R., Dr, McGhee, Sean, MD, Winkler, Sabine, MSc, Sassi, Atfa, PhD, Woellner, Cristina, MSc, Lopez-Herrera, Gabriela, PhD, Chen, Andrew, Kim, Hong Sook, PhD, Lloret, Maria Garcia, MD, Schulze, Ilka, MD, Ehl, Stephan, MD, Thiel, Jens, MD, Pfeifer, Dietmar, Dr, Veelken, Hendrik, MD, Niehues, Tim, MD, Siepermann, Kathrin, MD, Weinspach, Sebastian, MD, Reisli, Ismail, MD, Keles, Sevgi, MD, Genel, Ferah, MD, Kutuculer, Necil, MD, Camcoğlu, Yldz, MD, Somer, Ayper, MD, Karakoc-Aydiner, Elif, MD, Barlan, Isil, MD, Gennery, Andrew, MD, Metin, Ayse, MD, PhD, Degerliyurt, Aydan, MD, Pietrogrande, Maria C., MD, Yeganeh, Mehdi, MD, Baz, Zeina, MD, Al-Tamemi, Salem, MD, Klein, Christoph, MD, PhD, Puck, Jennifer M., MD, Holland, Steven M., MD, McCabe, Edward R.B., MD, PhD, Grimbacher, Bodo, MD, Chatila, Talal A., MD, MSc

“…Background The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations…”
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Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells by Janssen, Erin, MD, PhD, Morbach, Henner, MD, Ullas, Sumana, MS, Bannock, Jason M., MA, Massad, Christopher, BS, Menard, Laurence, PhD, Barlan, Isil, MD, Lefranc, Gerard, PhD, Su, Helen, MD, PhD, Dasouki, Majed, MD, Al-Herz, Waleed, MD, Keles, Sevgi, MD, Chatila, Talal, MD, Geha, Raif S., MD, Meffre, Eric, PhD

“…Background Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections, increased serum IgE levels, eosinophilia, and a high incidence of…”
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Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency by Kiykim, Ayca, Ogulur, Ismail, Baris, Safa, Salzer, Elisabeth, Karakoc-Aydiner, Elif, Ozen, Ahmet Oguzhan, Garncarz, Wojciech, Hirschmugl, Tatjana, Krolo, Ana, Yucelten, Ayse Deniz, Boztug, Kaan, Barlan, Isil B

“…Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic…”
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Author Correction: 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.

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Sublingual immunotherapy in children with allergic rhinoconjunctivitis mono-sensitized to house-dust-mites: A double-blind-placebo-controlled randomised trial by Aydogan, Metin, Eifan, Aarif O, Keles, Sevgi, Akkoc, Tunc, Nursoy, Mustafa A, Bahceciler, Nerrin N, Barlan, Isil B

“…Summary Background Although sublingual immunotherapy (SLIT) has been demonstrated to be a safe and efficient treatment in children with seasonal allergic…”
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Plasmacytoid dendritic cell depletion in DOCK8 deficiency: Rescue of severe herpetic infections with IFN-α 2b therapy by Keles, Sevgi, MD, Jabara, Haifa H., BSc, Reisli, Ismail, MD, McDonald, Douglas R., MD, PhD, Barlan, Isil, MD, Hanna-Wakim, Rima, MD, Dbaibo, Ghassan, MD, Lefranc, Gerard, PhD, Al-Herz, Waleed, MD, Geha, Raif S., MD, Chatila, Talal A., MD, MSc

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Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome by AL KHATIB, Shadi, KELES, Sevgi, YILMAZ, Mustafa, IKINCIOGULLARI, Aydan, YEGIN, Olcay, YÜKSEK, Mutlu, GENEL, Ferah, KUCUKOSMANOGLU, Ercan, BAKI, Ali, BAHCECILER, Nerin N, RAMBHATLA, Anupama, NICKERSON, Derek W, GARCIA-LLORET, Maria, MCGHEE, Sean, BARLAN, Isil B, CHATILA, Talal, KARAKOC-AYDINER, Elif, REISLI, Ismail, ARTAC, Hasibe, CAMCIOGLU, Yildiz, COKUGRAS, Haluk, SOMER, Ayper, KUTUKCULER, Necil

“…Background The hyper IgE syndrome (HIES) is characterized by abscesses, eczema, recurrent infections, skeletal and connective tissue abnormalities, elevated…”
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G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia by Kiykim, Ayca, Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet O., Ogulur, Ismail, Bozkurt, Suheyla, Ataizi, Cigdem C., Boztug, Kaan, Barlan, Isil B.

“…Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital…”
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Clinical Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation by Baris, Safa, Schulze, Ilka, Ozen, Ahmet, Aydiner, Elif Karakoc, Altuncu, Emel, Karasu, Gulsun Tezcan, Ozturk, Nilufer, Lorenz, Myriam, Schwarz, Klaus, Vraetz, Thomas, Ehl, Stephan, Barlan, Isil B.

“…Purpose IPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by…”
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Potential Immunoregulatory Roles of Natural Killer Cells in Children with Atopic Dermatitis by Deniz, Gunnur, Cetin, Esin aktas, Akdeniz, Nilgun, Baris, Safa, Camcioglu, Yildiz, Barlan, Isil B

“…Conclusions Our findings suggested impaired NK cell functions in AD patients and imply a decrease of IFN-g production by NK1 cells, which may partially be…”
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Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder by Karaca, Ender, Karakoc-Aydiner, Elif, Bayrak, Omer Faruk, Keles, Sevgi, Sevli, Serhat, Barlan, Isil B., Yuksel, Adnan, Chatila, Talal A., Ozen, Mustafa

“…Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies…”
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Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome by O'Connell, Amy E, Volpi, Stefano, Dobbs, Kerry, Fiorini, Claudia, Tsitsikov, Erdyni, de Boer, Helen, Barlan, Isil B, Despotovic, Jenny M, Espinosa-Rosales, Francisco J, Hanson, I Celine, Kanariou, Maria G, Martínez-Beckerat, Roxana, Mayorga-Sirera, Alvaro, Mejia-Carvajal, Carmen, Radwan, Nesrine, Weiss, Aaron R, Pai, Sung-Yun, Lee, Yu Nee, Notarangelo, Luigi D

“…The Wiskott-Aldrich syndrome (WAS) is due to mutations of the WAS gene encoding for the cytoskeletal WAS protein, leading to abnormal downstream signaling from…”
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Efficacy of long-term sublingual immunotherapy as an adjunct to pharmacotherapy in house dust mite-allergic children with asthma by Ozdemir, Cevdet, Yazi, Didem, Gocmen, Izlem, Yesil, Ozlem, Aydogan, Metin, Semic-Jusufagic, Aida, Bahceciler, Nerin N., Barlan, Isil B.

“…Although sublingual immunotherapy (SLIT) is accepted to be a viable alternative of specific‐allergen immunotherapy, the efficacy of long‐term SLIT in asthmatic…”
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Mouse Bone Marrow Derived Mesenchymal Stem Cells Supress Airway Inflammation In Both Chronic and Acute Murine Asthma Model by Akkoc, Tunc, Dr, Ogulur, Ismail, Mr, Gurhan, Gulben, Ms, Aksoy, Ayca, Ms, Duruksu, Gokhan, Dr, Filinte, Deniz, Dr, Kombak, Erdem, Dr, Barlan, Isil B., Prof, Karaoz, Erdal, Prof

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Impact of sublingual immunotherapy on specific antibody levels in asthmatic children allergic to house dust mites by Bahceciler, Nerin N, Arikan, Cigdem, Taylor, Alison, Akdis, Mubeccel, Blaser, Kurt, Barlan, Isil B, Akdis, Cezmi A

“…To evaluate the clinical outcome and changes in allergen-specific antibodies during sublingual immunotherapy (SLIT) in house dust mite (HDM)-allergic asthma…”
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Neonatal BCG vaccination induces IL-10 production by CD4+ CD25+ T cells by Akkoc, Tunc, Aydogan, Metin, Yildiz, Aysegul, Karakoc-Aydiner, Elif, Eifan, Aarif, Keles, Sevgi, Akin, Mustafa, Kavuncuoglu, Sultan, Bahceciler, Nerin N., Barlan, Isil B.

“…Akkoc T, Aydogan M, Yildiz A, Karakoc‐Aydiner E, Eifan A, Keles S, Akin M, Kavuncuoglu S, Bahceciler NN, Barlan IB. Neonatal BCG vaccination induces IL‐10…”
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