18 results on '"Artac, Hasibe."'
Search Results
2. ILC3 deficiency and generalized ILC abnormalities in DOCK8‐deficient patients
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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, and Patiroglu, Turkan
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Prevention ,Vaccine Related ,Biodefense ,Emerging Infectious Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Cytokines ,Guanine Nucleotide Exchange Factors ,Humans ,Immunity ,Innate ,Job Syndrome ,Lymphocytes ,Mutation ,DOCK8 ,Hyper-IgE syndrome ,ILC ,ILC3 ,STAT3 ,Hyper‐ ,IgE syndrome - Abstract
BackgroundDedicator of cytokinesis 8 (DOCK8) deficiency is the main cause of the autosomal recessive hyper-IgE syndrome (HIES). We previously reported the selective loss of group 3 innate lymphoid cell (ILC) number and function in a Dock8-deficient mouse model. In this study, we sought to test whether DOCK8 is required for the function and maintenance of ILC subsets in humans.MethodsPeripheral blood ILC1-3 subsets of 16 DOCK8-deficient patients recruited at the pretransplant stage, and seven patients with autosomal dominant (AD) HIES due to STAT3 mutations, were compared with those of healthy controls or post-transplant DOCK8-deficient patients (n = 12) by flow cytometry and real-time qPCR. Sorted total ILCs from DOCK8- or STAT3-mutant patients and healthy controls were assayed for survival, apoptosis, proliferation, and activation by IL-7, IL-23, and IL-12 by cell culture, flow cytometry, and phospho-flow assays.ResultsDOCK8-deficient but not STAT3-mutant patients exhibited a profound depletion of ILC3s, and to a lesser extent ILC2s, in their peripheral blood. DOCK8-deficient ILC1-3 subsets had defective proliferation, expressed lower levels of IL-7R, responded less to IL-7, IL-12, or IL-23 cytokines, and were more prone to apoptosis compared with those of healthy controls.ConclusionDOCK8 regulates human ILC3 expansion and survival, and more globally ILC cytokine signaling and proliferation. DOCK8 deficiency leads to loss of ILC3 from peripheral blood. ILC3 deficiency may contribute to the susceptibility of DOCK8-deficient patients to infections.
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- 2020
3. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
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Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R
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Biomedical and Clinical Sciences ,Immunology ,Human Genome ,Prevention ,Clinical Research ,Genetic Testing ,Genetics ,Rare Diseases ,2.1 Biological and endogenous factors ,Detection ,screening and diagnosis ,4.1 Discovery and preclinical testing of markers and technologies ,Aetiology ,Good Health and Well Being ,Adolescent ,Adult ,Aged ,Child ,Child ,Preschool ,DNA Copy Number Variations ,Female ,Genomics ,High-Throughput Nucleotide Sequencing ,Humans ,Immunologic Deficiency Syndromes ,Infant ,Male ,Middle Aged ,Young Adult ,Primary immunodeficiency disease ,whole-exome sequencing ,copy number variants ,Allergy - Abstract
BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.
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- 2017
4. Apoptosis‐induced T‐cell lymphopenia is related to COVID‐19 severity
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Cizmecioglu, Ahmet, Akay Cizmecioglu, Hilal, Goktepe, Mevlut Hakan, Emsen, Ayca, Korkmaz, Celalettin, Esenkaya Tasbent, Fatma, Colkesen, Fatma, and Artac, Hasibe
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Adult ,Male ,medicine.medical_specialty ,Coronavirus disease 2019 (COVID-19) ,T-Lymphocytes ,Apoptosis ,Severity of Illness Index ,Gastroenterology ,Flow cytometry ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Disease severity ,Lymphopenia ,Virology ,Internal medicine ,medicine ,T-cell lymphopenia ,Humans ,In patient ,Prospective Studies ,030212 general & internal medicine ,Aged ,Aged, 80 and over ,medicine.diagnostic_test ,SARS-CoV-2 ,business.industry ,Significant difference ,COVID-19 ,Middle Aged ,Flow Cytometry ,Infectious Diseases ,Case-Control Studies ,Etiology ,Female ,030211 gastroenterology & hepatology ,business - Abstract
Increased levels of acute-phase reactants and lymphopenia are predictors of disease severity in coronavirus disease 2019 (COVID-19). This study aimed to investigate the role of apoptosis in the etiology of lymphopenia in patients with COVID-19. This multicentered, prospective, and case-control study was conducted with polymerase chain reaction (+) severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) patients, and an age-gender-matched control group. Samples were taken at the time of diagnosis and analyzed via flow cytometry within 24 h. The participants' demographic data and initial laboratory tests were also recorded. In total, 33 patients with COVID-19 (mean age = 45.4 ± 17.2) and 25 controls (mean age = 43.4 ± 17.4) participated in the study. All patients were identified as having mild (16), moderate (5), or severe (12) disease severity. Both early and late apoptotic cells in B and T lymphocytes were increased in all patients with COVID-19 (p < .05). Early apoptotic (EA) B and T lymphocytes were also higher in severe cases compared to mild cases (p = .026). There was no significant difference between lymphopenia and apoptosis in patients with COVID-19. However, patients with lymphopenia (n = 14) and severe COVID-19 (p = .013) had increased EA T lymphocytes. This study's results show that B and T lymphocytes' apoptosis increases in patients with COVID-19. In addition, enhanced T lymphocyte apoptosis is associated with disease severity in lymphopenic patients with COVID-19.
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- 2021
5. Desmoglein-1 Deficiency Mimicking Omenn Syndrome.
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Comert, Meltem, Guler, Tugba, Ceylan, Ayca, Celik, İlknur Kulhas, Karabagli, Pinar, Cora, Tulin, and Artac, Hasibe
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FLUCONAZOLE ,BIOPSY ,IMMUNOGLOBULINS ,ACYCLOVIR ,CONGENITAL ichthyosiform erythroderma ,CO-trimoxazole ,GENETIC mutation ,KERATOSIS ,SEVERE combined immunodeficiency ,RETINOIDS - Abstract
The article presents a case study of a 3-month-old patient with congenital non-bullous ichthyosiform erythroderma, initially misdiagnosed as Omenn syndrome but later identified with Desmoglein-1 (DSG1) deficiency. Topics discussed include the diagnostic process, the clinical features distinguishing DSG1 deficiency from Omenn syndrome, and the treatment approach including immunoglobulin replacement therapy and retinoid treatment.
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- 2024
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6. In Silico Design And Analysis Of Next-Generation Multi-Epitope Based Vaccine Against Non-Typhoidal Salmonella Enterica
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Sahin, Ali, Babayev, Huseyn, Kurtoglu, Fatima Hacer, Emrem, Mustafa, Artac, Hasibe, and Tekin, Saban
- Abstract
Öz bulunamadı.
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- 2021
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7. In Silico Designed Multi-Epitope Vacinne Against Brucella Melitensis
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Sahin, Ali, Babayev, Huseyn, Ozdemir, Ebru Marzioglu, Artac, Hasibe, and Tekin, Saban
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Öz bulunamadı.
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- 2021
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8. B cell aplasia and hypogammaglobulinemia associated with levetiracetam
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Ozdemir, Hulya, primary, Sumer, Sua, additional, Karabagli, Hakan, additional, Akdemir, Gokhan, additional, Caliskaner, A. Zafer, additional, and Artac, Hasibe, additional
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- 2018
- Full Text
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9. SÜT ÇOCUKLARINDA İYATROJENİK D VİTAMİNİ İNTOKSİKASYONU:ÜÇ OLGU
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ÜNAL, Ekrem, KOKSAL, Yavuz, KELES, Sevgi, ARTAC, Hasibe, REİSLİ, İsmail, and ENERGİN, Meltem
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Vitamin D,Zehirlenme,Nefrokalsinozis,Çocuk - Abstract
D vitaminin aşırı kullanılmasının potansiyel yan etkileri iyi bilinmektedir. D-vitaminin aşırı kullanılımı barsaktan kalsiyum emilimini artırıp hiperkalsemi ve hiperkalsiüriye; bu ise nefrokalsinozis, ürolitiyazis ve yumuşak dokuda kalsifikasyonlara yol açabilir. Farklı radyolojik bulguları olan üç iyatrojenik D-vitamini intoksikasyonu olgusunun klinik özellikleri sunulmuştur. D vitamini intoksikasyonundan ve komplikasyonlarından kaçınılması için D-vitamini dozu dikkatli hesaplanmalıdır. Ayrıca, çocuklar için zararlı olabilecek ilaçların reçetesiz satılması engellenmelidir.
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- 2015
10. Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
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Gokturk, Bahar, Guner, Sukru Nail, Kara, Reyhan, Kirac, Mine, Keles, Sevgi, Artac, Hasibe, Zamani, Ayse Gul, Yildirim, Mahmut Selman, and Reisli, Ismail
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- 2016
11. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in humans
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Calzoni, Enrica, Platt, Craig D., Keles, Sevgi, Kuehn, Hye Sun, Zhang, Yu, Pazmandi, Julia, Lanzi, Gaetana, Tahiat, Azzedine, Artac, Hasibe, Dmytrus, Jasmin, Reisli, Ismail, Uygun, Dilara, Bertrand Boisson, Rosenzweig, Sergio D., Su, Helen C., Giliani, Silvia, Lenardo, Michael J., Geha, Raif S., Boztug, Kaan, Chou, Janet, Notarangelo, Luigi D., Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, and Artac, Hasibe.
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animal structures ,immune deficiency ,protein ,FCHO1 - Abstract
Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference -- APR 04-07, 2019 -- Atlanta, GA, WOS: 000463709600246, Clathrin-mediated endocytosis (CME) is the major endocytic pathway by which eukaryotic cells internalize cell-surface cargo proteins and extracellular molecules, thereby allowing for a broad range of biological processes, including cell signaling, nutrient and growth factor uptake, and cell fate and differentiation1. The FBAR domain only proteins 1 and 2 (FCHO1/FCHO2) are involved in the initiation of clathrin coat pit formation. Whether FCHO1 and FCHO2 are functionally redundant or have distinct functions is unclear. We report here the first cases of a severe immunodeficiency due to a genetic defect affecting CME. By using whole exome sequencing and genomic analysis of a targeted PID gene panel, we have identified biallelic loss-of-function FCHO1 mutations in five patients from unrelated families of Italian (P1), Turkish (P2, P3, and P5) and Algerian (P4) origin with severe T cell lymphopenia manifesting as recurrent and severe infections of bacterial, mycobacterial, viral and fungal origin. P3 developed EBV-associated diffuse large B cell lymphoma. Three patients (P3-P5) died in childhood, whereas P1 and P2 are alive with full donor chimerism at 13 and 1.5 years after allogeneic hematopoietic stem cell transplantation, respectively and have cleared pre-transplant infections. Patients P2, P3, and P4 carried homozygous frameshift mutations predicted to cause premature termination. Western-blotting analysis of HA- or FLAG-tagged FCHO1 constructs showed expression of truncated products in P2 and P3, whereas no protein was detected in P4, presumably due to mRNA decay. P1 and P5 carried homozygous splice-site mutations at the invariant -1 and +1 positions, respectively, leading to skipping of exon 6 in P1's FCHO1 cDNA. qPCR analysis demonstrated differential expression of the FCHO1 and FCHO2 genes, with the former being predominantly expressed in lymphoid cells, whereas FCHO2 was more abundantly expressed in fibroblasts and K562 cells. Analysis of T cell activation in P2 (the only patient for whom pre-transplant PBMC were available) revealed reduced T cell proliferation. While TCR internalization in response to CD3 cross-linking was normal (consistent with recent evidence that TCR internalization occurs through a clathrin-independent pathway), chase experiments demonstrated that transferrin internalization was abolished in activated T cells from P2. We had previously reported that a missense mutation in TFRC, encoding transferrin receptor 1, impairs transferrin internalization and intracellular iron delivery, causing a combined immunodeficiency with defective T cell proliferation. Our data identify the first form of severe immunodeficiency due to defects of clathrin-mediated endocytosis, and provide additional evidence in support of the critical role played by iron cellular metabolism in T cell function and homeostasis., Clin Immunol Soc
12. Reference ranges for serum immunoglobulin (IgG, IgA, and IgM) and IgG subclass levels in healthy children
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Ayca Emsen, Hatice Türk Dağı, Hulya Ozdemir, Rumeysa Olcay Bayram, Hasibe Artac, Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Bayram, Rumeysa Olcay, Ozdemir, Hulya, Emsen, Ayca, Dagi, Hatice Turk, and Artac, Hasibe
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Male ,Immunoglobulin A ,Adolescent ,Physiology ,030204 cardiovascular system & hematology ,Article ,serum immunoglobulins ,Immunoglobulin G ,Subclass ,03 medical and health sciences ,0302 clinical medicine ,Immune system ,Nephelometry and Turbidimetry ,Reference Values ,Health Care Sciences and Services ,medicine ,Humans ,Healthy children ,IgG subclasses ,Sağlık Bilimleri ve Hizmetleri ,Child ,0303 health sciences ,biology ,030306 microbiology ,business.industry ,Common variable immunodeficiency ,Infant, Newborn ,Infant ,Reproducibility of Results ,General Medicine ,Igg subclasses ,reference interval ,medicine.disease ,Healthy Volunteers ,Immunity, Humoral ,Common Variable Immunodeficiency ,Immunoglobulin M ,Child, Preschool ,Healthy children,IgG subclasses,reference interval,serum immunoglobulins ,biology.protein ,Antibody ,business - Abstract
WOS: 000465264700008, PubMed: 30997788, Background/aim: The serum immunoglobulin levels are used routinely in clinical practice because they provide key information on the humoral immune status. This study aimed to determine the age-related reference values of serum immunoglobulin levels in healthy children. Materials and methods: A total of 330 healthy children, aged between 0 and 18 years, were included in this study. The serum immunoglobulin levels were measured using a nephelometric method in a total of 11 groups, each group consisting of 30 individuals, and IgG subclasses in 6 groups of children aged more than 2 years. Results: The serum IgG levels were high during the newborn period, decreased until the sixth month, and again increased to a maximum level at the age of 18 years. The level of IgA was found to be extremely low in the newborn period and then increased with age. While the lowest value was in the newborn period for serum IgM level, the highest value was in the 16- to 18-year-old period. The IgG subclasses varied depending on the age groups. Conclusion: The updated reference intervals of immunoglobulin levels in children may be used for the accurate diagnosis of immune deficiencies., Scientific Research Projects of Selcuk UniversitySelcuk University [15102034], We thank the children and their families for participating. The study was supported by the Scientific Research Projects of Selcuk University (Project No: 15102034).
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- 2019
13. Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses
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Öner Özdemir, Safa Baris, Omer Aydiner, Sevgi Bilgic Eltan, Haluk Cokugras, Burcu Kolukisa, Esra Yücel, Elif Karakoç Aydıner, Ezgi Yalcin Gungoren, Asena Pinar Sefer, Koray Yalcin, Fazil Orhan, Mehmet Akif Yesilipek, Ayca Kiykim, Ahmet Ozen, Hasibe Artac, Royale Babayeva, Nalan Yakıcı, Tülin Tiraje Celkan, Esra Karabiber, Eda Kepenekli, Aydiner, Elif Karakoc, Eltan, Sevgi Bilgic, Babayeva, Royale, Aydiner, Omer, Kepenekli, Eda, Kolukisa, Burcu, Sefer, Asena Pinar, Gungoren, Ezgi Yalcin, Karabiber, Esra, Yucel, Esra Ozek, Ozdemir, Oner, Kiykim, Ayca, Artac, Hasibe, Yakici, Nalan, Yalcin, Koray, Cokugras, Haluk, Celkan, Tulin Tiraje, Orhan, Fazil, Yesilipek, Mehmet Akif, Baris, Safa, and Ozen, Ahmet
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medicine.medical_specialty ,Allergy ,Adolescent ,inborn errors of immunity ,Primary Immunodeficiency Diseases ,SARS-Cov-2 ,Immunology ,medicine.disease_cause ,Subclass ,Procalcitonin ,Immune system ,Immunity ,COVID‐19 ,Internal medicine ,medicine ,Immunology and Allergy ,Humans ,Autoimmunity and Clinical Immunology ,Prospective Studies ,Prospective cohort study ,Survival analysis ,business.industry ,SARS-CoV-2 ,Immunologic Deficiency Syndromes ,COVID-19 ,Immune dysregulation ,medicine.disease ,SARS‐Cov‐2 ,outcome ,Original Article ,ORIGINAL ARTICLES ,business - Abstract
Background Genetic deficiencies of immune system, referred to as inborn errors of immunity (IEI), serve as a valuable model to study human immune responses. In a multicenter prospective cohort, we evaluated the outcome of SARS‐CoV‐2 infection among IEI subjects and analyzed genetic and immune characteristics that determine adverse COVID‐19 outcomes. Methods We studied 34 IEI patients (19M/15F, 12 [min: 0.6‐max: 43] years) from six centers. We diagnosed COVID‐19 infection by finding a positive SARS‐CoV‐2 PCR test (n = 25) and/or a lung tomography scoring (CORADS) ≥4 (n = 9). We recorded clinical and laboratory findings prospectively, fitted survival curves, and calculated fatality rates for the entire group and each IEI subclass. Results Nineteen patients had combined immune deficiency (CID), six with predominantly antibody deficiency (PAD), six immune dysregulation (ID), two innate immune defects, and one in the autoinflammatory class. Overall, 23.5% of cases died, with disproportionate fatality rates among different IEI categories. PAD group had a relatively favorable outcome at any age, but CIDs and IDs were particularly vulnerable. At admission, presence of dyspnea was an independent risk for COVID‐related death (OR: 2.630, 95% CI; 1.198–5.776, p, 34 IEI patients aged between 0.6 and 43 years, eight patients (23.5%) succumbed to COVID‐19, indicating a highly vulnerable condition to COVID‐19. Laboratory markers associated with mortality included elevated acute phase reactants, ferritin, troponin T, TLS, and reduced ALC levels, albumin, and baseline IgG. Coughing, dyspnea, CORADS category 4–6, and negative SARS‐CoV‐2 PCR at admission were among the predictors of lethal outcome.
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- 2021
14. Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency
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Asbjørg Stray-Pedersen, Hulya Ucaryilmaz, Hasibe Artac, Halil Haldun Emiroglu, Vedat Uygun, Ayca Emsen, Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Artac, Hasibe, Emsen, Ayca, Ucaryilmaz, Hulya, and Emiroglu, Halil Haldun
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Infliximab therapy ,Male ,Ectodermal dysplasia ,medicine.medical_specialty ,Allergy ,medicine.medical_treatment ,Primary Immunodeficiency Diseases ,Immunology ,Hematopoietic stem cell transplantation ,Gastroenterology ,Ectodermal Dysplasia ,Internal medicine ,medicine ,Humans ,Colitis ,Inflammatory colitis ,business.industry ,Hematopoietic Stem Cell Transplantation ,Infant ,medicine.disease ,Allografts ,Infliximab ,I-kappa B Kinase ,Colitis, Ulcerative ,business ,medicine.drug - Abstract
WOS: 000495942300001, PubMed: 31713830, …
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- 2019
15. The effect of allergen immunotherapy on serum periostin levels in children with allergic rhinitis
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Neriman Akdam, Ali Ünlü, Hasibe Artac, Ahmet Hakan Dikener, Hulya Ucaryilmaz, Ayca Emsen, Selçuk Üniversitesi, Tıp Fakültesi, Tıbbi Biyokimya Bölümü, Ucaryilmaz, Hulya, Akdam, Neriman, and Artac, Hasibe
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Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Allergen immunotherapy ,allergic rhinitis ,biology ,business.industry ,Visual analogue scale ,Immunology ,Significant difference ,Periostin ,Eosinophil ,asthma ,medicine.disease ,Immunoglobulin E ,Gastroenterology ,medicine.anatomical_structure ,Internal medicine ,Eosinophilic ,medicine ,biology.protein ,Immunology and Allergy ,business ,serum periostin ,Asthma - Abstract
WOS: 000480413700005, Objective: Periostin, an extracellular matrix protein, is related to the eosinophilic airway inflammation. There is no specific marker in allergen immunotherapy to evaluate clinical response. We aimed to investigate the serum periostin levels in the children who receive allergen immunotherapy. Materials and Methods: Sixteen patients between 8-18 years (12.7 +/- 2.8 years) with allergic rhinitis and/or asthma due to grass pollen hypersensitivity and 30 healthy subjects (11.7 +/- 2.6 years) were included. Demographic data, eosinophil counts, skin prick tests and the specific IgE levels of the patients are recorded. Symptom scores, visual analog scales, medication scores were determined and the serum periostin levels were measured in the beginning, 4th and 12th months of the allergen immunotherapy. Results: The symptom scores for rhinitis in the 4th month showed significant improvements in all of the patients (p< 0.05). Nine patients with allergic rhinitis accompanied by asthma, showed significant improvements in 12th month symptom score for asthma (p=0.018). A significant correlation was detected between the initial serum periostin levels and the symptom scores for the eye (r=0.668, p=0.005). No significant difference was found in serum periostin levels between the patient and the control groups. There were no significant differences in serum periostin levels in 4th and 12th months compared to the ones in the beginning. Conclusion: In this study, there were no significant differences in serum periostin levels of children during the allergen immunotherapy. The association of serum periostin levels with symptom scores for the eye needs to be confirmed in more children with allergic rhinoconjunctivitis.
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- 2019
16. F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects
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Ismail Reisli, Chafa Bendahmane, Erdem Basaran, Enrica Calzoni, Jennifer Jones, Janet Chou, Michael J. Lenardo, Craig D. Platt, Julia Pazmandi, Hye Sun Kuehn, Raul Jimenez Heredia, Helen C. Su, Ayşen Bingöl, Sergio D. Rosenzweig, Fulvio Porta, Raif S. Geha, Sevgi Keles, Melike Emiroglu, Nafissa Benhalla, Lixin Zheng, Yu Zhang, Francesca Pala, Sarah Beaussant-Cohen, Jasmin Dmytrus, Vedat Uygun, Kaan Boztug, Kamel Djenouhat, Jacqueline G. Wallace, Silvia Giliani, Tomas Kirchhausen, Bertrand Boisson, Hasibe Artac, Luigi D. Notarangelo, Dilara Fatma Kocacık Uygun, Azzeddine Tahiat, Gaetana Lanzi, Mithun Pasham, Selçuk Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Artac, Hasibe., and Emiroglu, Melike.
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0301 basic medicine ,Immunology and Allergy ,Immunology ,genetic structures ,Biology ,biochemical phenomena, metabolism, and nutrition ,immune deficiency ,Endocytosis ,FCHO1 ,eye diseases ,Article ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Immune system ,BAR domain ,sense organs ,protein ,human activities ,030217 neurology & neurosurgery - Abstract
WOS: 000470113200044, PubMed: 30822429, …, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland; "Angelo Nocivelli'' Foundation, Supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, and by the "Angelo Nocivelli'' Foundation.
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- 2019
17. Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome
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Anupama Rambhatla, Ismail Reisli, Mutlu Yüksek, Mustafa Yilmaz, Ercan Kucukosmanoglu, Nerin N. Bahceciler, Derek W. Nickerson, Shadi Al Khatib, Haluk Cokugras, Hasibe Artac, Maria Garcia-Lloret, Sevgi Keles, Necil Kutukculer, Ferah Genel, Aydan Ikinciogullari, Elif Karakoc-Aydiner, Sean A. McGhee, Olcay Yegin, Ali Baki, Isil Barlan, Ayper Somer, Yildiz Camcioglu, Talal A. Chatila, Çukurova Üniversitesi, Selçuk Üniversitesi, Al Khatib, Shadi, Keles, Sevgi, Garcia-Lioret, Maria, Koc-Aydiner, Elif Kara, Reisli, Ismail, Artac, Hasibe, Camcioglu, Yildiz, Cokugras, Haluk, Somer, Ayper, Kutukculer, Necil, Yilmaz, Mustafa, Ikinciogullari, Aydan, Yegin, Olcay, Yueksek, Mutlu, Genel, Ferah, Kucukosmanoglu, Ercan, Baki, Ali, Bahceciler, Nerin N., Rambhatla, Anupama, Nickerson, Derek W., McGhee, Sean, Barlan, Isil B., Chatila, Talal, and Ege Üniversitesi
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Male ,Receptors, Retinoic Acid ,Immunoglobulin E ,Interleukin-23 ,Cohort Studies ,STAT3 ,Interleukin 21 ,BINDING ,IL-21 ,Immunology and Allergy ,STAT1 ,TH17 ,Child ,PHOSPHORYLATION ,CELL-DIFFERENTIATION ,Receptors, Thyroid Hormone ,ROLES ,biology ,Interleukin-17 ,Cell Differentiation ,T-Lymphocytes, Helper-Inducer ,Nuclear Receptor Subfamily 1, Group F, Member 3 ,Interleukin-12 ,DEFICIENCY ,STAT1 Transcription Factor ,Tyrosine kinase 2 ,Job Syndrome ,Child, Preschool ,ROR?t ,Female ,Interleukin 17 ,Antibody ,STAT3 Transcription Factor ,medicine.medical_specialty ,Adolescent ,DEFENSE ,Immunology ,INNATE ,Article ,Interferon-gamma ,Internal medicine ,medicine ,Humans ,IL-6 ,Interleukin-6 ,MUTATIONS ,Interleukins ,T(H)17 ,Infant ,Interferon-alpha ,ROR gamma t ,UNPHOSPHORYLATED STAT3 ,Endocrinology ,Mutation ,biology.protein ,STAT protein ,Hyper IgE syndrome ,Interleukin-1 ,GENERATION - Abstract
WOS: 000268860400023, PubMed ID: 19577286, Background: The hyper IgE syndrome (HIES) is characterized by abscesses, eczema, recurrent infections, skeletal and connective tissue abnormalities, elevated serum IgE, and diminished inflammatory responses. It exists as autosomal-dominant and autosomal-recessive forms that manifest common and distinguishing clinical features. A majority of those with autosomal-dominant HIES have heterozygous mutations in signal transducer and activator of transcription (STAT)-3 and impaired T(H)17 differentiation. Objective: To elucidate mechanisms underlying different forms of HIES. Methods: A cohort of 25 Turkish children diagnosed with HIES were examined for STAT3 mutations by DNA sequencing. Activation of STAT3 by IL-6 and IL-21 and STAT1 by IFN-alpha was assessed by intracellular staining with anti-phospho (p)STAT3 and -pSTAT1 antibodies. T(H)17 and T(H)1 cell differentiation was assessed by measuring the production of IL-17 and IFN-gamma, respectively. Results: Six subjects had STAT3 mutations affecting the DNA binding, Src homology 2, and transactivation domains, including 3 novel ones. Mutation-positive but not mutation-negative subjects with HIES exhibited reduced phosphorylation of STAT3 in response to cytokine stimulation, whereas pSTAT1 activation was unaffected. Both patient groups exhibited impaired TH17 responses, but whereas STAT3 mutations abrogated early steps in TH17 differentiation, the defects in patients with HIES with normal STAT3 affected more distal steps. Conclusion: In this cohort of Turkish children with HIES, a majority had normal STAT3, implicating other targets in disease pathogenesis. Impaired TH17 responses were evident irrespective of the STAT3 mutation status, indicating that different genetic forms of HIES share a common functional outcome. (J Allergy Clin Immunol 2009;124:342-8.), National Institutes of HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USA [5R01AI065617], Supported by National Institutes of Health grant 5R01AI065617 (T.C.).
- Published
- 2009
18. Case report: Artemis deficiency and 3M syndrome-coexistence of two distinct genetic disorders.
- Author
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Ceylan A, Tekdemir IE, Kocak N, Chinn IK, Orange JS, and Artac H
- Abstract
The presence of two different genetic conditions in the same individual is possible, especially in populations with consanguinity. In this case report, we present the coexistence of Artemis deficiency (OMIM 602450) and Three M (3M) syndrome (OMIM 273750). A 10-months-old male patient with neuromotor developmental delay was evaluated for immunodeficiency due to recurrent respiratory infections diarrhea and oral moniliasis from the age of 1.5 months. He had facial dysmorphism with rotated ears, flat nose and hypertelorism. Neurological examination revealed generalized hypotonia and mental motor delay. Immunological screening of the patient demonstrated mild lymphopenia, hypogammaglobulinemia, reduced number of CD3
+ T cells (980 cells/mm3 ) and CD19+ B cells (35 cells/mm3 ). He was diagnosed with leaky T- B- NK+ SCID. Exome sequence analysis showed the presence of a homozygous pathogenic DCLRE1C variant [c.194C > T; p.T65I (NM_001033855)] and a homozygous pathogenic variant in OBSL1 , a gene associated with 3M syndrome [c.3922C > T; p.R1308X (NM_001173431)]. Our proband died of sepsis and multiple organ failure. This case illustrates that different clinical findings in patients might not be explained with a single genetic defect, and consanguinity increases the change for coexistence of autosomal recessive diseases. Clinicians should consider exome sequencing to identify disease-causing mutations in patients with heterogeneity of clinical findings., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Ceylan, Tekdemir, Kocak, Chinn, Orange and Artac.)- Published
- 2023
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