Person: KILIÇ GÜLTEKİN, SARA ŞEBNEM
Loading...
Email Address
Birth Date
Research Projects
Organizational Units
Job Title
Last Name
KILIÇ GÜLTEKİN
First Name
SARA ŞEBNEM
Name
70 results
Search Results
Now showing 1 - 10 of 70
Publication The impact of the SARS-CoV-2 pandemic in PID patients receiving ig replacement therapy(Springer, 2021-01-15) Çekiç, Şükrü; Çiçek, Fatih; Kılıç, Sara Şebnem; ÇEKİÇ, ŞÜKRÜ; ÇİÇEK, FATİH; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/İmmünoloji ve Romatoloji Anabilim Dalı; 0000-0002-9574-1842; 0000-0001-7348-7081; 0000-0001-8571-2581; L-1933-2017; AAH-1658-2021; JMD-8408-2023Publication Clinical and laboratory findings in patients with leukocyte adhesion deficiency type i: A multicenter study in Turkey(Oxford Universitesi, 2021-08-05) Yaz, İsmail; Özbek, Begüm; Bildik, Hacer Neslihan; Tan, Cağman; Halacli, Sevil Oskay; Aytekin, Elif Soyak; Esenboga, Saliha; Keskin, Ozlem; Leeuwen, Karin; Roos, Dirk; Cagdas, Deniz; Tezcan, Ilhan; Çekiç, Şükrü; ÇEKİÇ, ŞÜKRÜ; Kılıç, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0002-9574-1842; 0000-0001-8571-2581; L-1933-2017; AAH-1658-2021Leukocyte adhesion deficiency type I is a rare primary immunodeficiency disorder characterized by mutations in the ITGB2 gene encoding CD18. We present clinical and immunological features of 15 patients with leukocyte adhesion deficiency type 1 (LAD-1). Targeted next-generation sequencing was performed with either a primary immunodeficiency gene panel comprising 266 genes or a small LAD-panel consisting of five genes for genetic analysis. To measure the expression level of integrins on the leukocyte surface, flow cytometry analysis was performed. The median age of the patients at diagnosis was 3 (1-48) months. Eleven (73%) of the 15 patients had a LAD-1 diagnosis in their first 6 months and 14 (93%) patients had consanguineous parents. Delayed separation of the umbilical cord was present in 80% (n = 12) of the patients in our cohort, whereas omphalitis was observed in 53% (n = 8) of the patients. Leukocytosis with neutrophil predominance was observed in 73% (n = 11) patients. Nine distinct variants in the ITGB2 gene in 13 of the 15 patients with LAD-1 were characterized, two of which (c.305_306delAA and c.779_786dup) are novel homozygous mutations of ITGB2. Four unrelated patients from Syria had a novel c.305_306delAA mutation that might be a founder effect for patients of Syrian origin. Four (27%) patients underwent hematopoietic stem cell transplantation. Two patients died because of HSCT complications and the other two are alive and well. Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling.Publication Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry(Academic Press Inc Elsevier Science, 2022-11-01) Jamee, Mahnaz; Azizi, Gholamreza; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kilic, Sara S.; Kose, Hulya; Chavoshzadeh, Zahra; Mahdaviani, Seyed Alireza; Momen, Tooba; Shamsian, Bibi Shahin; Fallahi, Mazdak; Sharafian, Samin; Gulez, Nesrin; Aygun, Ayse; Karaca, Neslihan Edeer; Kutukculer, Necil; Al Sukait, Nashat; Al Farsi, Tariq; Al-Tamemi, Salem; Khalifa, Nisreen; Shereen, Reda; El-Ghoneimy, Dalia; El-Owaidy, Rasha; Radwan, Nesrine; Alzyoud, Raed; Barbouche, Mohamed-Ridha; Ben-Mustapha, Imen; Mekki, Najla; Rais, Afef; Boukari, Rachida; Belbouab, Reda; Djenouhat, Kamel; Tahiat, Azzeddine; Touri, Souad; Elghazali, Gehad; Al-Hammadi, Suleiman; Shendi, Hiba Mohammed; Alkuwaiti, Amna; Belaid, Brahim; Djidjik, Reda; Artac, Hasibe; Adeli, Mehdi; Sobh, Ali; Elnagdy, Marwa H.; Bahgat, Sara A.; Nasrullayeva, Gulnara; Chou, Janet; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif S.; Abolhassani, Hassan; KILIÇ GÜLTEKİN, SARA ŞEBNEM; KÖSE, HÜLYA; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Alerji ve İmmünoloji Bilim Dalı.; 0000-0002-5727-4075 ; JHC-2536-2023; LBH-2414-2024Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42-192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD.Publication The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency(Mosby-Elsevier, 2015-08-01) Engelhardt, Karin R.; Gertz, Michael E.; Keleş, Sevgi; Schaeffer, Alejandro A.; Sigmund, Elena C.; Glocker, Cristina; Saghafi, Shiva; Pourpak, Zahra; Ceja, Ruben; Sassi, Atfa; Graham, Laura E.; Massaad, Michel J.; Mellouli, Fethi; Ben-Mustapha, Imen; Khemiri, Monia; Kılıç, Sara Şebnem; Etzioni, Amos; Freeman, Alexandra F.; Thiel, Jens; Schulze, Ilka; Al-Herz, Waleed; Metin, Ayse; Sanal, Oezden; Tezcan, Ilhan; Yeganeh, Mehdi; Niehues, Tim; Dueckers, Gregor; Weinspach, Sebastian; Patiroglu, Turkan; Ünal, Ekrem; Dasouki, Majed; Yılmaz, Mustafa; Genel, Ferah; Aytekin, Caner; Kütükçüler, Necil; Somer, Ayper; Kılıç, Mehmet; Reisli, Ismail; Camcioğlu, Yıldız; Gennery, Andrew R.; Cant, Andrew J.; Jones, Alison; Gaspar, Bobby H.; Arkwright, Peter D.; Pietrogrande, Maria C.; Baz, Zeina; Al-Tamemi, Salem; Lougaris, Vassilios; Lefranc, Gerard; Megarbane, Andre; Boutros, Jeannette; Galal, Nermeen; Bejaoui, Mohamed; Barbouche, Mohamed-Ridha; Geha, Raif S.; Chatila, Talal A.; Grimbacher, Bodo; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.; AAH-1658-2021Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical importance because of the difference in prognosis and management.Objectives: We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational spectrum of DOCK8 deficiency, and report on the frequency of specific clinical findings.Methods: Eighty-two patients from 60 families with CID and the phenotype of AR-HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with those from 10 patients with AR-HIES without a DOCK8 mutation and 64 patients with signal transducer and activator of transcription 3 (STAT3) mutations.Results: DOCK8-deficient patients had median IgE levels of 5201 IU, high eosinophil levels of usually at least 800/mu L (92% of patients), and low IgM levels (62%). About 20% of patients were lymphopenic, mainly because of low CD4(+) and CD8(+) T-cell counts. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of 5 clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations.Conclusions: DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.Publication Wiskott aldrich syndrome(Galenos Yayıncılık, 2008-12-01) Yapıcı, Şenay; Kılıç, S. Şebnem; Yapıcı, Şenay; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmünoloji Bilim Dalı; 0000-0001-8571-2581; AAH-1658-2021; EHN-3812-2022The Wiskott Aldrich Syndrome (WAS) is a well defined X-linked recessive disorder associated with microplatelet thrombocytopeniae, eczema, secondary pyogenic infections, and an increased risk of autoimmunity and lymphoreticular neoplasia. The responsible mutations that are associated with WAS and X-linked thrombocytopeniae are mutations in the WAS protein. Severity of the disease varies with types of WASP mutations. Hematopoietic stem cell transplantations or gene therapy is the only curative therapy for WAS patients. Improved profilactic antimicrobial therapy againts secondary infections and prophylactic use of IVIG have markedly prolonged the life expectancy of WAS patients.Publication Cancer in patients with primary immune deficiency(Wiley, 2016-11-01) Demirkaya, M.; Sevinir, B.; Kılıç, S.; Öztürk, H.; Demirkaya, Metin; SEVİNİR, BETÜL BERRİN; KILIÇ GÜLTEKİN, SARA ŞEBNEM; ÖZTÜRK NAZLIOĞLU, HÜLYA; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk İmmunoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Onkoloji Anabilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.; IXQ-3375-2023; 0000-0002-3232-7652; AAH-1570-2021; EUG-4353-2022; IDK-5744-2023Publication Interleukin 10 and TGF-BETA gene polymorphisms can effect granulomatous formationin chronic granulomatous disease(Gazi Üniversitesi, 2007-01-01) Baştürk, Bilkay; Kılıç, Sara Şebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tip Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/ İmmunoloji Bilim Dalı; AAH-1658-2021Introduction: Chronic granulomatous disease (CGD) is a rare and fatal inherited immunodeficiency syndrome. Recurrent bacterial and fungal infections, abnormal inflammatory responses and granuloma formation are common.Purpose: Patients with CGD are susceptible to bacterial and fungal pathogens, with associated dysregulated inflammation and widespread granuloma formation. The objective of this study was to evaluate the clinical presentation, granuloma formation and association with cytokine gene polymorphisms.Patients and Methods: Four patients with CGD and 60 healthy controls were enrolled in this study. All genotyping (TNF-alpha, TGF-beta, IL-10, IL-6, and IFN-.) studies were performed using sequence-specific primers (PCRSSP).Results: Frequencies of IL-10 (-1082, -819, -592) ACC/ATA polymorphism were significantly greater in the patients with CGD.Conclusion: The results suggest that the IL-10 ACC/ATA polymorphism is associated with granuloma formation.Publication A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets(Rockefeller Univ Press, 2007-07-09) Pasvolsky, Ronit; Feigelson, Sara W.; Kılıç, Sara Şebnem; Simon, Amos J.; Tal-Lapidot, Guy; Grabovsky, Valentin; Crittenden, Jill R.; Amariglio, Ninette; Safran, Michal; Graybiel, Ann M.; Rechavi, Gideon; Ben-Dor, Shifra; Etzioni, Amos; Alon, Ronen; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik İmmünoloji Anabilim Dalı.; AAH-1658-2021Leukocyte and platelet integrins rapidly alter their affinity and adhesiveness in response to various activation (inside-out) signals. A rare leukocyte adhesion deficiency (LAD), LAD-III, is associated with severe defects in leukocyte and platelet integrin activation. We report two new LAD cases in which lymphocytes, neutrophils, and platelets share severe defects in beta(1), beta(2), and beta(3) integrin activation. Patients were both homozygous for a splice junction mutation in their CaIDAG-GEFI gene, which is a key Rap-1/2 guanine exchange factor (GEF). Both mRNA and protein levels of the GEF were diminished in LAD lymphocytes, neutrophils, and platelets. Consequently, LAD-II platelets failed to aggregate because of an impaired alpha(IIb)beta(3) activation by key agonists. beta(2) integrins on LAD-III neutrophils were unable to mediate leukocyte arrest on TNF alpha-stimulated endothelium, despite normal selectin-mediated rolling. In situ subsecond activation of neutrophil beta(2) integrin adhesiveness by surface-bound chemoattractants and of primary T lymphocyte LFA-1 by the CXCL12 chemokine was abolished. Chemokine inside-out signals also failed to stimulate lymphocyte LFA-1 extension and high affinity epitopes. Chemokine-triggered VLA-4 adhesiveness in T lymphocytes was partially defective as well. These studies identify CaIDAG-GEFI as a critical regulator of inside-out integrin activation in human T lymphocytes, neutrophils, and platelets.Publication The evaluation of radiosensitivity in patients with STAT3 deficiency(Springer, 2021-04-01) Çekiç, Şükrü; Hüriyet, Hüzeyfe; Hortoğlu, Melika; Barış, Safa; Metin, Ayşe; Özen, Ahmet; Aydıner, Elif Karakoç; Abakay, Candan; Çavaş, Tolga; Kılıç, Sara; ÇEKİÇ, ŞÜKRÜ; Hüriyet, Hüzeyfe; BEKTAŞ HORTOĞLU, MELİKA; DEMİRÖZ ABAKAY, CANDAN; ÇAVAŞ, TOLGA; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk İmmunoloji Bilim Dalı.; 0000-0002-9574-1842; 0000-0001-8494-601X; 0000-0003-4150-5200; AAA-4154-2022; JBJ-7521-2023; R-6749-2017; L-1933-2017; HKN-1599-2023Publication Immunological evaluation of the patients with CAPS(Wiley, 2020-08-01) Çekiç, Şükrü; Kılıç, Sara Şebnem; ÇEKİÇ, ŞÜKRÜ; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Alerji ve Klinik İmmünoloji Anabilim Dalı.; 0000-0002-9574-1842; 0000-0001-8571-2581; AAH-1658-2021; L-1933-2017