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KILIÇ GÜLTEKİN, SARA ŞEBNEM

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KILIÇ GÜLTEKİN

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SARA ŞEBNEM

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Now showing 1 - 10 of 78
  • Publication
    Neurological involvement in primary immunodeficiencies
    (Springer/plenum Publishers, 2022-04-01) KÖSE, HÜLYA; KARALI, ZUHAL; Çekiç, Şükrü; ÇEKİÇ, ŞÜKRÜ; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0001-8571-2581; L-1933-2017; AAH-1658-2021
  • Publication
    Toll-like receptor stimulation induces higher tnf-α secretion in peripheral blood mononuclear cells from patients with hyper ige syndrome
    (Karger, 2008-01-01) Yeganeh, Mehdi; Henneke, Philipp; Rezaei, Nima; Ehl, Stephan; Thiel, Doerte; Matamoros, Nuria; Pietrogrande, Cristina; Espanol, Teresa; Litzman, Jiri; Franco, Jose L.; Sanal, Ozden; Kılıç, Sara S.; Breborowicz, Anna; Plebani, Alessandro; Renner, Ellen; Rothenfusser, Simon; Hawn, Thomas R.; Woellner, Cristina; Grimbacher, Bodo; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Pediatrik İmmünoloji Ana Bilim Dalı; 0000-0002-9454-1603; 0000-0002-1926-5426; 0000-0001-8571-2581; 0000-0002-5398-1717; 0000-0001-9816-8538; 0000-0002-6897-6806; AAH-1658-2021
    Hyper IgE syndromes (HIES) are primary immunodeficiency disorders of unknown pathogenesis. Patients are typically affected with 'cold' abscesses of the skin, recurrent cyst-forming pneumonia, chronic mucocutaneous candidiasis and other less frequent features such as progressive skeletal abnormalities. Defective signaling in the Toll-like receptor (TLR) pathways has been suggested as a responsible pathologic mechanism, however, in previous reports, 10 patients revealed no defect in inflammatory cytokine responses to different TLR ligands. Here, we report the increase in pro-inflammatory cytokines TNF-alpha and IL-8, following TLR2 and TLR4 stimulation in a larger cohort of 25 additional patients with HIES, and provide a meta-analysis of the TLR data in HIES. Copyright (C) 2008 S. Karger AG, Basel.
  • Publication
    T-cell/histiocyte-rich large B-cell lymphoma in a patient with a novel frameshift MSH6 mutation
    (Wiley, 2022-09-24) Çekiç, Şükrü; Aydın, Firdevs; Karalı, Yasin; Sevinir, Betül Berrin; Canöz, Özlem; Boztuğ, Kaan; Ünal, Ekrem; Kılıç, Sara Şebnem; ÇEKİÇ, ŞÜKRÜ; KARALI, YASİN; SEVİNİR, BETÜL BERRİN; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Pediatrik İmmünoloji Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0002-3232-7652; 0000-0002-2691-4826; 0000-0001-8571-2581; ISC-9139-2023; L-1933-2017; AAH-1658-2021; AAH-1570-2021
  • Publication
    Human TYK2 deficiency: Mycobacterial and viral infections without hyper-ige syndrome
    (Rockefeller Univ Press, 2015-09-21) Kreins, Alexandra Y.; Ciancanelli, Michael J.; Okada, Satoshi; Kong, Xiao-Fei; Ramirez-Alejo, Noe; Kılıç, Sara Şebnem; El Baghdadi, Jamila; Nonoyama, Shigeaki; Mahdaviani, Seyed Alireza; Ailal, Fatima; Bousfiha, Aziz; Mansouri, Davood; Nievas, Elma; Ma, Cindy S.; Rao, Geetha; Bernasconi, Andrea; Kuehn, Hye Sun; Niemela, Julie; Stoddard, Jennifer; Deveau, Paul; Cobat, Aurelie; El Azbaoui, Safa; Sabri, Ayoub; Lim, Che Kang; Sundin, Mikael; Avery, Danielle T.; Halwani, Rabih; Grant, Audrey V.; Boisson, Bertrand; Bogunovic, Dusan; Itan, Yuval; Moncada-Velez, Marcela; Martinez-Barricarte, Ruben; Migaud, Melanie; Deswarte, Caroline; Alsina, Laia; Kotlarz, Daniel; Klein, Christoph; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Cormier-Daire, Valerie; Rose-John, Stefan; Picard, Capucine; Hammarstrom, Lennart; Puel, Anne; Al-Muhsen, Saleh; Abel, Laurent; Chaussabel, Damien; Rosenzweig, Sergio D.; Minegishi, Yoshiyuki; Tangye, Stuart G.; Bustamante, Jacinta; Casanova, Jean-Laurent; Boisson-Dupuis, Stephanie; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Pediatrik İmmünoloji Ana Bilim Dalı; AAH-1658-2021
    Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-alpha/beta, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17(+) T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-gamma, IL-28/29 (IFN-lambda), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-alpha/beta. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.
  • Publication
    Infliximab therapy in an infant with Netherton Syndrome
    (Wiley, 2021-04-22) Çiçek, Fatih; Çekiç, Şükrü; Kılıç, Sara Şebnem; ÇİÇEK, FATİH; ÇEKİÇ, ŞÜKRÜ; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Pediatrik İmmünoloji Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0001-8571-2581; 0000-0001-7348-7081; AAH-1658-2021; JKI-5906-2023; L-1933-2017
    We present a patient with Netherton syndrome and severe skin manifestations treated with infliximab. By 6 months of age, the child had intractable pruritus, scaling, dry skin, and generalized eczematous lesions resistant to conventional therapies for atopic dermatitis. Clinical improvement was observed following the third infusion of infliximab, and by 12 months of age, the skin lesions completely resolved. Infliximab is a promising option for the management of skin inflammation in Netherton syndrome, even in infants.
  • Publication
    Immunological evaluation of the patients with CAPS
    (Wiley, 2020-08-01) Çekiç, Şükrü; Kılıç, Sara Şebnem; ÇEKİÇ, ŞÜKRÜ; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Çocuk Alerji ve Klinik İmmünoloji Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0001-8571-2581; AAH-1658-2021; L-1933-2017
  • Publication
    Retrospective view of primary Raynaud's phenomenon in childhood
    (Elsevier Espana, 2019-11-01) Turan, Enes; Kılıç, Sara Şebnem; TURAN, ENES; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; 0000-0001-8571-2581; AAH-1658-2021; JSJ-2135-2023
    Objectives: Primary Raynaud's phenomenon (PRP) manifests as episodes of transient spasms of peripheral blood vessels. To elucidate the clinical clues and laboratory characteristics will facilitate the identification of PRP.Methods: A retrospective data collection of clinical and laboratory characteristics of 58 children with PRP was performed between January 2007 and December 2016.Results: A positive ANA test at lower titers <1:100 was detected in 24.1% of the patients. There was a significant relationship between presence of ANA positivity and migraine in female patients with PRP (p = 0.01; p = 0.020 respectively). The most common accompanying disorder was migraine which was detected in 37.9% of all patients with PRP. Hemoglobin and serum ferritin levels were significantly lower in PRP patients with migraine (p = 0.045; p < 0.05, respectively). Additionally, the mean platelet volume (MPV) measurements were significantly higher in patients with migraine compared to those without migraine (p = 0.045; p < 0.05 respectively).Discussion: There is limited data concerning childhood PRP. For the first time we showed a high frequency of migraine in childhood PRP. Anemia and high MPV could be the underlying triggering factors of these two episodic diseases.
  • Publication
    Differential biological role of CD3 chains revealed by human immunodeficiencies
    (Amer Assoc Immunologists, 2007-02-15) Recio, Maria J.; Moreno-Pelayo, Miguel Angel; Kılıç, Sara S.; Guardo, Alberto C.; Sanal, Ozden; Allende, Luis M.; Perez-Flores, Veronica; Mencia, Angeles; Modamio-Hoybjor, Silvia; Seoane, Elena; Regueiro, Jose R.; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Tıp Fakültesi; 0000-0001-8571-2581; AAH-1658-2021
    The biological role in vivo of the homologous CD3 gamma and delta invariant chains within the human TCR/CD3 complex is a matter of debate, as murine models do not recapitulate human immunodeficiencies. We have characterized, in a Turkish family, two new patients with complete CD3 gamma deficiency and SCID symptoms and compared them with three CD3 gamma-deficient individuals belonging to two families from Turkey and Spain. All tested patients shared similar immunological features such as a partial TCR/CD3 expression defect, mild alpha beta and gamma delta T lymphocytopenia, poor in vitro proliferative responses to Ags and mitogens at diagnosis, and very low TCR rearrangement excision circles and CD45RA(+) alpha beta T cells. However, intrafamilial and interfamilial clinical variability was observed in patients carrying the same CD3G mutations. Two reached the second or third decade in healthy conditions, whereas the other three showed lethal SCID features with enteropathy early in life. In contrast, all reported human complete CD3 delta (or CD3 epsilon) deficiencies are in infants with life-threatening SCID and very severe alpha beta and gamma delta T lymphocytopenia. Thus, the peripheral T lymphocyte pool was comparatively well preserved in human CD3 gamma deficiencies despite poor thymus output or clinical outcome. We propose. a CD3 gamma >> CD3 gamma hierarchy for the relative impact of their absence on the signaling for T cell production in humans.
  • Publication
    Vedolizumab treatment in a patient with x-linked agammaglobulinemia, is it safe and efficient?
    (Turkish J Pediatrics, 2019-11-01) Kılıç, Sara Sebnem; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Çekiç, Sükrü; ÇEKİÇ, ŞÜKRÜ; Özgür, Taner; ÖZGÜR, TANER; Özkan, Tanju; ÖZKAN, TANJU MUNEVVER; Karali, Yasin; KARALI, YASİN; Tıp Fakültesi; Pediatri Ana Bilim Dalı; 0000-0002-9574-1842; 0000-0001-5740-9729; 0000-0001-8571-2581; AAG-8416-2021; AAH-1658-2021; L-1933-2017; AAG-8381-2021
    The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications. There is no data on the use of Vedolizumab in patients with X-linked agammaglobulinemia (XLA) as well as children with another primary immunodeficiency (PID) diseases. A 4-year-old boy was admitted to our clinic with a history of recurrent respiratory tract infections. He was diagnosed with XLA based on extremely low immunoglobulins, very low level of B cells, genetic mutation of BTK gene, and family history. At the age of 8, he suffered from intermittent fever attacks, abdominal pain, weakness, oral aft, and weight loss. His clinical and laboratory features were consistent with inflammatory bowel disease. Histopathological examination of the biopsy material obtained from terminal ileum, colon and cecum showed Crohn's disease. Initially, he was treated with prednisolone and infliximab. Because of the lack of response, infliximab treatment was switched to adalimumab. Terminal ileum was resected to relieve obstruction complication. Although he had been treated with adalimumab, a significant improvement was not observed. Vedolizumab (Entyvio (TM)), a humanized monoclonal antibody alpha 4 beta 7 integrin-receptor antagonist, was commenced. After treatment with vedolizumab, his fever and abdominal pain attacks reduced, his total daily calorie intake increased and weight gain improved. He began to walk again and continued his school education properly. No side effects were observed in 18 months. This is the first immunocompromised child treated with vedolizumab. The symptoms of the patient receded and no side effect were seen during the treatment.
  • Publication
    Presentations and clinical outcomes of patients diagnosed with pfapa
    (BMJ Publishing Group, 2014-06-01) Kılıç, Sara Şebnem; Hafızoğlu, Demet; KILIÇ GÜLTEKİN, SARA ŞEBNEM; Hafızoğlu, Demet; Tıp Fakültesi; 0000-0001-8571-2581; AAH-1658-2021; AFR-3218-2022