Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency

Por Alkan, Gülsüm, Keles, Sevgi, Reisli, İsmail
Publicado no Int J Pediatr (2018)

A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency

Por Santos-Valente, Elisangela, Reisli, Ismail, Artaç, Hasibe, Ott, Raphael, Sanal, Özden, Boztug, Kaan
Publicado em 2012

CD19 controls TLR9 responses in human B cells

Por Morbach, Henner, Schickel, Jean-Nicolas, Cunningham-Rundles, Charlotte, Conley, Mary Ellen, Reisli, Ismail, Franco, Jose Luis, Meffre, Eric
Publicado no J Allergy Clin Immunol (2015)

Clinical Spectrum of LIG4 Deficiency Is Broadened with Severe Dysmaturity, Primordial Dwarfism, and Neurological Abnormalities

Por IJspeert, Hanna, Warris, Adilia, Flier, Michiel, Reisli, Ismail, Keles, Sevgi, Chishimba, Sandra, Dongen, Jacques JM, Gent, Dik C, Burg, Mirjam
Publicado em 2013

(Un)Awareness of Allergy

Por Kalpaklioglu, A. Fusun, Kalkan, Ilkay Koca, Akcay, Ahmet, Reisli, Ismail, Can, Demet, Uzuner, Nevin, Yuksel, Hasan, Kirmaz, Cengiz, Gulen, Figen, Ediger, Dane
Publicado em 2011

Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome

Por Lun, Melody P., Shannon, Morgan L., Keles, Sevgi, Reisli, Ismail, Luche, Nicole, Ryan, Douglas, Capuder, Kelly, Notarangelo, Luigi D., Lehtinen, Maria K.
Publicado no Am J Pathol (2019)

Molecular dissection of human b-cell tolerance - insights from primary immunodeficiencies

Por Morbach, Henner, Meyers, Greta, Ng, Yen-Shing, Schickel, Jean-Nicolas, Menard, Laurence, Rudchenko, Sergei, Rojas, Jessica, Cunningham-Rundles, Charlotte, Conley, Mary, Reisli, Ismail, Franco, Jose, Meffre, Eric
Publicado em 2014

Plasmacytoid Dendritic Cell Depletion in DOCK8 Deficiency: Rescue of Severe Herpetic Infections with Interferon Alpha-2b Therapy

Por Keles, Sevgi, Jabara, Haifa H., Reisli, Ismail, McDonald, Douglas R., Barlan, Isil, Hanna-Wakim, Rima, Dbaibo, Ghassan, Lefranc, Gerard, Al-Herz, Waleed, Geha, Raif S., Chatila, Talal A.
Publicado em 2014

Molecular dissection of human B-cell tolerance – insights from patients with rare genetic diseases

Por Morbach, Henner, Meyers, Greta, Ng, Yen-Shing, Schickel, Jean-Nicolas, Menard, Laurence, Rudchenko, Sergei, Rojas, Jessica L, Cunningham-Rundles, Charlotte, Conley, Mary Ellen, Reisli, Ismail, Franco, Jose Luis, Meffre, Eric
Publicado no Mol Cell Pediatr (2014)

Combined Immunodeficiency due to a loss of function mutation in DNA Polymerase Delta 1

Por Cui, Ye, Keles, Sevgi, Charbonnier, Louis-Marie, Julé, Amélie M., Henderson, Lauren, Celik, Seyma Celikbilek, Reisli, Ismail, Shen, Chen, Xie, Wen Jun, Schmitz-Abe, Klaus, Wu, Hao, Chatila, Talal A.
Publicado no J Allergy Clin Immunol (2019)

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Por Felgentreff, Kerstin, Lee, Yu Nee, Frugoni, Francesco, Du, Likun, van der Burg, Mirjam, Giliani, Silvia, Tezcan, Ilhan, Reisli, Ismail, Mejstrikova, E, Villartay, JP, Sleckman, Barry P, Manis, John, Notarangelo, Luigi D
Publicado no J Allergy Clin Immunol (2015)

DOCK8 Regulates STAT3 Activation and Promotes Th17 Cell Differentiation

Por Keles, Sevgi, Charbonnier, Louis Marie, Kabaleeswaran, Venkataraman, Reisli, Ismail, Genel, Ferah, Gulez, Nesrin, Al-Herz, Waleed, Ramesh, Narayanaswamy, Perez-Atayde, Antonio, Eeder, Neslihan Karaca, Kutukculer, Necil, Wu, Hao, Geha, Raif S., Chatila, Talal A.
Publicado no J Allergy Clin Immunol (2016)

Defects Along the Th17 Differentiation Pathway Underlie Genetically Distinct Forms of the Hyper IgE Syndrome

Por Khatib, Shadi Al, Keles, Sevgi, Garcia-Lloret, Maria, Karakoc-Aydiner, Elif, Reisli, Ismail, Artac, Hasibe, Camcioglu, Yildiz, Cokugras, Haluk, Somer, Ayper, Kutukculer, Necil, Yilmaz, Mustafa, Ikinciogullari, Aydan, Yegin, Olcay, Yüksek, Mutlu, Genel, Ferah, Kucukosmanoglu, Ercan, Baki, Ali, Bahceciler, Nerin N, Rambhatla, Anupama, Nickerson, Derek W., McGhee, Sean, Barlan, Isil B, Chatila, Talal
Publicado em 2009

Patients with CD3G mutations reveal a role for human CD3γ in T(reg) diversity and suppressive function

Por Rowe, Jared H., Delmonte, Ottavia M., Keles, Sevgi, Stadinski, Brian D., Dobbs, Adam K., Henderson, Lauren A., Yamazaki, Yasuhiro, Allende, Luis M., Bonilla, Francisco A., Gonzalez-Granado, Luis I., Celikbilek Celik, Seyma, Guner, Sukru N., Kapakli, Hasan, Yee, Christina, Pai, Sung-Yun, Huseby, Eric S., Reisli, Ismail, Regueiro, Jose R., Notarangelo, Luigi D.
Publicado no Blood (2018)

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Por Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A., Fliegauf, Manfred, Sayar, Esra H., Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S¸ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo
Publicado no Hum Mol Genet (2015)

DOCK8 functions as an adaptor that links Toll-like receptor–MyD88 signaling to B cell activation

Por 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, Wakim, Rima, Dbaibo, Ghassan, Dasouki, Majed, Al-Herz, Waleed, Barlan, Isil, Baris, Safa, Kutukculer, Necil, Ochs, Hans, Plebani, Alessandro, Kanariou, Maria, Lefranc, Gerard, Reisli, Ismail, Fitzgerald, Kate, Golenbock, Douglas, Manis, John, Keles, Sevgi, Ceja, Reuben, Chatila, Talal, Geha, Raif S.
Publicado em 2012

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Por Weemaes, Corry MR, van Tol, Maarten JD, Wang, Jun, van Ostaijen-ten Dam, Monique M, van Eggermond, Marja CJA, Thijssen, Peter E, Aytekin, Caner, Brunetti-Pierri, Nicola, van der Burg, Mirjam, Graham Davies, E, Ferster, Alina, Furthner, Dieter, Gimelli, Giorgio, Gennery, Andy, Kloeckener-Gruissem, Barbara, Meyn, Stephan, Powell, Cynthia, Reisli, Ismail, Schuetz, Catharina, Schulz, Ansgar, Shugar, Andrea, van den Elsen, Peter J, van der Maarel, Silvère M
Publicado em 2013

ILC3 Deficiency and Generalized ILC Abnormalities in DOCK8 Deficient Patients

Por Eken, Ahmet, Cansever, Murat, Okus, Fatma Zehra, Erdem, Serife, Nain, Ercan, Azizoglu, Zehra Busra, Haliloglu, Yesim, Karakukcu, Musa, Ozcan, Alper, Devecioglu, Omer, Aksu, Guzide, Ayyildiz, Zeynep Arikan, Topal, Erdem, Aydiner, Elif Karakoc, Kiykim, Ayca, Metin, Ayse, Cipe, Funda, Kaya, Aysenur, Artac, Hasibe, Reisli, Ismail, Guner, Sukru N., Uygun, Vedat, Karasu, Gulsun, Altuntas, Hamiyet Dönmez, Canatan, Halit, Oukka, Mohamed, Ozen, Ahmet, Chatila, Talal A., Keles, Sevgi, Baris, Safa, Unal, Ekrem, Patiroglu, Turkan
Publicado no Allergy (2019)

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado no Nat Commun (2015)

Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Por Thijssen, Peter E., Ito, Yuya, Grillo, Giacomo, Wang, Jun, Velasco, Guillaume, Nitta, Hirohisa, Unoki, Motoko, Yoshihara, Minako, Suyama, Mikita, Sun, Yu, Lemmers, Richard J. L. F., de Greef, Jessica C., Gennery, Andrew, Picco, Paolo, Kloeckener-Gruissem, Barbara, Güngör, Tayfun, Reisli, Ismail, Picard, Capucine, Kebaili, Kamila, Roquelaure, Bertrand, Iwai, Tsuyako, Kondo, Ikuko, Kubota, Takeo, van Ostaijen-Ten Dam, Monique M., van Tol, Maarten J. D., Weemaes, Corry, Francastel, Claire, van der Maarel, Silvère M., Sasaki, Hiroyuki
Publicado no Nat Commun (2016)