Browsing by Author "Kilic, Sara S."

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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-2414-2024
Monogenic 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.
Hematopoietic stem cell transplantation positively affects the natural history of cancer in nijmegen breakage syndrome
(Amer Assoc Cancer Research, 2021-01-15) Wolska-Kusnierz, Beata; Pastorczak, Agata; Fendler, Wojciech; Wakulinska, Anna; Dembowska-Baginska, Bozena; Heropolitanska-Pliszka, Edyta; Piatosa, Barbara; Pietrucha, Barbara; Kalwak, Krzysztof; Ussowicz, Marek; Pieczonka, Anna; Drabko, Katarzyna; Lejman, Monika; Koltan, Sylwia; Gozdzik, Jolanta; Styczynski, Jan; Fedorova, Alina; Miakova, Natalia; Deripapa, Elena; Kostyuchenko, Larysa; Krenova, Zdenka; Hlavackova, Eva; Gennery, Andrew R.; Sykora, Karl-Walter; Ghosh, Sujal; Albert, Michael H.; Balashov, Dmitry; Eapen, Mary; Svec, Peter; Seidel, Markus G.; Tomaszewska, Agnieszka; Wiesik-Szewczyk, Ewa; Kreins, Alexandra; Greil, Johann; Buechner, Jochen; Lund, Bendik; Gregorek, Hanna; Chrzanowska, Krystyna; Mlynarski, Wojciech; Kilic, Sara S.; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0003-4863-4443; 0000-0003-3089-6947; 0000-0002-5083-9168; 0000-0002-2561-0636; 0000-0001-5519-2730; 0000-0001-8949-047X; 0000-0002-9723-8351; 0000-0003-1174-5799; 0000-0001-5725-4835; 0000-0001-5922-4242; 0000-0002-7094-9129; 0000-0002-8760-0775; 0000-0002-3158-119X; 0000-0002-0262-1359; 0000-0001-9143-3263; 0000-0001-6590-5802; 0000-0001-6193-4243; 0000-0002-7647-2253; 0000-0003-0981-8661; 0000-0001-8571-2581; 0000-0001-8509-4453; 0000-0001-8748-5837; 0000-0001-5848-4501; 0000-0003-2714-5851; S-9959-2016; T-7487-2019; B-4557-2018; P-1827-2019; AAH-1658-2021; N-9951-2017; AAD-5720-2020; S-9592-2016
Purpose: Nijmegen breakage syndrome (NBS) is a DNA repair disorder with a high predisposition to hematologic malignancies.Experimental Design: We describe the natural history of NBS, including cancer incidence, risk of death, and the potential effectiveness of hematopoietic stem cell transplantation (HSCT) in preventing both pathologies: malignancy and immunodeficiency.Results: Among 241 patients with NBS enrolled in the study from 11 countries, 151 (63.0%) patients were diagnosed with cancer. Incidence rates for primary and secondary cancer, tumor characteristics, and risk factors affecting overall survival (OS) were estimated. The cumulative cancer incidence was 40.21% +/- 3.5% and 77.78% +/- 3.4% at 10 years and 20 years of follow-up, respectively. Most of the tumors n = 95 (62.9%) were non-Hodgkin lymphomas. Overall, 20 (13.2%) secondary malignancies occurred at a median age of 18 (interquartile range, 13.7-21.5) years. The probability of 20-year overall survival (OS) for the whole cohort was 44.6% +/- 4.5%. Patients who developed cancer had a shorter 20-year OS than those without malignancy (29.6% vs. 86.2%; P < 10(-5)). A total of 49 patients with NBS underwent HSCT, including 14 patients transplanted before malignancy. Patients with NBS with diagnosed cancer who received HSCT had higher 20-year OS than those who did not (42.7% vs. 30.3%; P = 0.038, respectively). In the group of patients who underwent preemptive transplantation, only 1 patient developed cancer, which is 6.7 times lower as compared with nontransplanted patients [incidence rate ratio 0.149 (95% confidence interval, 0.138-0.162); P < 0.0001].Conclusions: There is a beneficial effect of HSCT on the long-term survival of patients with NBS transplanted in their first complete remission of cancer.
Simple measurement of iga predicts immunity and mortality in ataxia-telangiectasia
(Springer/plenum Publishers, 2021-09-03) Zielen, Stefan; Duecker, Ruth Pia; Woelke, Sandra; Donath, Helena; Bakhtiar, Sharhzad; Buecker, Aileen; Kreyenberg, Hermann; Huenecke, Sabine; Bader, Peter; Mahlaoui, Nizar; Ehl, Stephan; El-Helou, Sabine M.; Pietrucha, Barbara; Plebani, Alessandro; van der Flier, Michiel; van Aerde, Koen; Reda, Shereen M.; Kostyuchenko, Larysa; McDermott, Elizabeth; Galal, Nermeen; Pignata, Claudio; Perez, Juan Luis Santos; Laws, Hans-Juergen; Niehues, Tim; Kutukculer, Necil; Seidel, Markus G.; Marques, Laura; Ciznar, Peter; Edgar, John David M.; Soler-Palacin, Pere; von Bernuth, Horst; Krueger, Renate; Meyts, Isabelle; Baumann, Ulrich; Kanariou, Maria; Grimbacher, Bodo; Hauck, Fabian; Graf, Dagmar; Granado, Luis Ignacio Gonzalez; Prader, Seraina; Reisli, Ismail; Slatter, Mary; Rodriguez-Gallego, Carlos; Arkwright, Peter D.; Bethune, Claire; Deripapa, Elena; Sharapova, Svetlana O.; Lehmberg, Kai; Davies, E. Graham; Schuetz, Catharina; Kindle, Gerhard; Schubert, Ralf; Kilic, Sara S.; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a poorer prognosis. In this study, we analyzed mortality and immunity data of 659 A-T patients with regard to IgA deficiency collected from the European Society for Immunodeficiencies (ESID) registry and from 66 patients with classical A-T who attended at the Frankfurt Goethe-University between 2012 and 2018. We studied peripheral B- and T-cell subsets and T-cell repertoire of the Frankfurt cohort and survival rates of all A-T patients in the ESID registry. Patients with A-T have significant alterations in their lymphocyte phenotypes. All subsets (CD3, CD4, CD8, CD19, CD4/CD45RA, and CD8/CD45RA) were significantly diminished compared to standard values. Patients with IgA deficiency (n = 35) had significantly lower lymphocyte counts compared to A-T patients without IgA deficiency (n = 31) due to a further decrease of naive CD4 T-cells, central memory CD4 cells, and regulatory T-cells. Although both patient groups showed affected TCR-ss repertoires compared to controls, no differences could be detected between patients with and without IgA deficiency. Overall survival of patients with IgA deficiency was significantly diminished. For the first time, our data show that patients with IgA deficiency have significantly lower lymphocyte counts and subsets, which are accompanied with reduced survival, compared to A-T patients without IgA deficiency. IgA, a simple surrogate marker, is indicating the poorest prognosis for classical A-T patients. Both non-interventional clinical trials were registered at clinicaltrials.gov 2012 (Susceptibility to infections in ataxia-telangiectasia; NCT02345135) and 2017 (Susceptibility to Infections, tumor risk and liver disease in patients with ataxia-telangiectasia; NCT03357978)