Person: AYDINER, ELİF
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AYDINER
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ELİF
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Publication Metadata only Outcome of hypogammaglobulinemia in children: Immunoglobulin levels as predictors(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010) ÖZEN, AHMET OĞUZHAN; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif; Ozdemir, Cevdet; Bahceciler, Nerin Nadir; Barlan, Isil BeratWe evaluated 131 children (M=88, F=43) with hypogammaglobulinemia Data was analyzed mainly for delineating predictor factors for outcome The distance from the lower limit of normal (-2SD) for any single measurement of immunoglobulins (Ig) was calculated and transformed into Ig scores Mean age and duration of follow up were 5 06 +/- 4 05 and 3 7 +/- 3 03 years, respectively The diagnoses were 22 CVID, 16 IgA deficiency, 33 transient hypogammaglobulinemia of childhood (THC), 3 selective IgM deficiency and 57 unclassified hypogammaglobulinemia (UCH) Low IgA scores (<-0 124) at presentation were indicative of subsequent development of IgA deficiency or CVID, whereas low IgM score (<-0 038) pointed towards more severe and persistent phenotypes Combination of low IgM score between 2 and 5 years, impaired antibody response and low B cell counts enabled us to predict persistence of hypogammaglobulinemia beyond 5 years (specificity = 90 5% and PPV = 94 9%) and chronic lung disease (sensitivity =90 4% and specificity = 68 3%) The set of criteria including low IgM scores, impaired antibody response and low B cell counts provided a high predictive value in detecting those with persistent hypogammaglobulinemia (C) 2010 Elsevier Inc All rights reservedPublication Metadata only Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy(AMER ASSOC ADVANCEMENT SCIENCE, 2015) AYDINER, ELİF; Lo, Bernice; Zhang, Kejian; Lu, Wei; Zheng, Lixin; Zhang, Qian; Kanellopoulou, Chrysi; Zhang, Yu; Liu, Zhiduo; Fritz, Jill M.; Marsh, Rebecca; Husami, Ammar; Kissell, Diane; Nortman, Shannon; Chaturvedi, Vijaya; Haines, Hilary; Young, Lisa R.; Mo, Jun; Filipovich, Alexandra H.; Bleesing, Jack J.; Mustillo, Peter; Stephens, Michael; Rueda, Cesar M.; Chougnet, Claire A.; Hoebe, Kasper; McElwee, Joshua; Hughes, Jason D.; Karakoc-Aydiner, Elif; Matthews, Helen F.; Price, Susan; Su, Helen C.; Rao, V. Koneti; Lenardo, Michael J.; Jordan, Michael B.Mutations in the LRBA gene (encoding the lipopolysaccharide-responsive and beige-like anchor protein) cause a syndrome of autoimmunity, lymphoproliferation, and humoral immune deficiency. The biological role of LRBA in immunologic disease is unknown. We found that patients with LRBA deficiency manifested a dramatic and sustained improvement in response to abatacept, a CTLA4 (cytotoxic T lymphocyte antigen-4)-immunoglobulin fusion drug. Clinical responses and homology of LRBA to proteins controlling intracellular trafficking led us to hypothesize that it regulates CTLA4, a potent inhibitory immune receptor. We found that LRBA colocalized with CTLA4 in endosomal vesicles and that LRBA deficiency or knockdown increased CTLA4 turnover, which resulted in reduced levels of CTLA4 protein in FoxP3(+) regulatory and activated conventional Tcells. In LRBA-deficient cells, inhibition of lysosome degradation with chloroquine prevented CTLA4 loss. These findings elucidate a mechanism for CTLA4 trafficking and control of immune responses and suggest therapies for diseases involving the CTLA4 pathway.Publication Open Access Normative Data of Thyroid Volume-Ultrasonographic Evaluation of 422 Subjects Aged 0-55 Years(GALENOS YAYINCILIK, 2015-06-05) BEREKET, ABDULLAH; Aydiner, Omer; Aydiner, Elif Karakoc; Akpinar, Ihsan; Turan, Serap; Bereket, AbdullahObjective: To establish local normative data of thyroid volume assessed by ultrasonography in subjects aged 0-55 years living in Istanbul, Turkey. Methods: Subjects without any known history of thyroid disease, of major surgery and/or chronic disease were enrolled in the study and evaluated by physical examination and thyroid ultrasonography. Thyroid gland and isthmus at usual location, each lateral lobe volume with three dimensions, ectopic thyroid tissue and echogenicity of the gland were assessed. Results: Initially, 494 subjects were enrolled in the study. Subjects showing heterogeneous thyroid parenchyma (n=21) and/or nodule (n=51) in ultrasonography were excluded. Final analysis covered 422 subjects (216 males, 206 females). Thyroid volume was found to significantly correlate with height, weight, age and body surface area (r=0.661, r=0.712, r=0.772 and r=0.779, respectively; p<0.0001 for all). These correlations were even stronger in subjects younger than 18 years (r=0.758, r=0.800, r=0.815 and r=0.802, respectively; p<0.0001 for all). Conclusion: The study provides updated reference norms for thyroid volume in Turkish subjects which can be used in the diagnosis and follow-up of patients with thyroid diseases.Publication Metadata only Osteoporosis: An ignored complication of CVID(WILEY, 2011) ÖZEN, AHMET OĞUZHAN; Baris, Safa; Ozen, Ahmet; Ercan, Hulya; Karakoc-Aydiner, Elif; Cagan, Hasret; Ozdemir, Cevdet; Barlan, Metin; Bahceciler, Nerin N.; Barlan, Isil B.Background: Multiple factors in common variable immunodeficiency (CVID) might interfere with optimal growth and maturation and potentially compromise bone health. Methods: We aimed to evaluate bone mineral density (BMD) of patients with CVID using dual energy X-ray absorptiometry (DEXA) and investigate risk factors associated with decreased bone density. Results: Twenty-two patients were included (M: 16, F: 6) with a mean age of 15.6 +/- 9.0 yr. DEXA revealed osteopenia in 6/22 (27.3%) and osteoporosis in 9/22 (40.9%) at lumbar spine and osteopenia in 7/19 (37%) and osteoporosis in 3/19 (16%) at femoral neck sites. The age of subjects with osteoporosis was significantly higher than those without (21.6 +/- 8.0 vs. 9.0 +/- 5.7 yr; p < 0.0001). BMD z-scores were significantly lower in patients with bronchiectasis compared with those without (p = 0.03). Patients with osteoporosis at femoral neck site had lower forced expiratory volume in 1 s (FEV1) (p = 0.024), FEV1/forced vital capacity (FVC) (p < 0.0001), PEF (p = 0.008), and FEF 25-75 (p = 0.013) values compared with the patients with normal BMD z-scores. Low serum 25(OH) vitamin D levels were detected in 13/22 patients and low dietary calcium intake in 17/22 patients. BMD z-scores at femoral neck were lower in patients with low B-cell percentage (p = 0.03). BMD z-score at lumbar spine was correlated with folate (r = +0.63, p = 0.004) and serum immunoglobulin G levels (r = +0.430, p = 0.04). Conclusion: Osteoporosis appeared as an emerging health problem of patients with CVID, the risk increasing with older age and poorer lung function. Nutritional, biochemical, and immunologic factors appeared to take part in decreased BMD. Insight into the mechanisms of osteoporosis in CVID is crucial to develop preventive strategies.Publication Metadata only CHAPLE disease and non-CHAPLE protein losing enteropathies: natural history and immune characteristics(2021-08-01) SELÇUK, MERVE; BARIŞ, SAFA; ÖZEN, AHMET OĞUZHAN; ÖĞÜLÜR, İSMAİL; AYDINER, ELİF; Selcuk M., Sefer A. P., Baser D., Ogulur I., Eltan S. B., Dursun E., Kocamis B., Kasap N., BARIŞ S., AYDINER E., et al.Publication Metadata only Evaluation of a Standardized Bakery Product (SUTMEK) as a Potential Tool for Baked-Milk Tolerance and Immunotherapy Research Studies(KARGER, 2019) ÖZEN, AHMET OĞUZHAN; Kiykim, Ayca; Karakoc-Aydiner, Elif; Gunes, Esra; Nain, Ercan; Ogulur, Ismail; Yazici, Duygu; Aktac, Sule; Bicer, Ayse Humeyra; Sackesen, Cansin; Baris, Safa; Ozen, AhmetBackground and Objectives: About 65-80% of children with IgE-mediated cow's milk allergy (CMA) can tolerate extensively heated milk. We have invested in the mass fabrication of a test product containing milk protein baked at 180 degrees C for 30 min (SUTMEK-milk) and a milk-free placebo (SUTMEK-placebo) to carry out a standardised double-blind placebo-controlled food challenge (DBPCFC) test in patients with CMA. Methods: We studied children with IgE-mediated CMA between 13 and 48 months of age. Specific IgEs (spIgE) to milk proteins were quantified. A DBPCFC with our bakery products was performed, and factors determining reactivity to extensively heated milk were evaluated. We also tested the applicability of SUTMEK products in baked-milk oral immunotherapy in a pilot assessment. Results: We studied 15 children (8 girls, 7 boys) with a median age of 26 months (range: 13-48 months). Nine (60%) patients tolerated a challenge with extensively heated milk, while 6 (40%) were found reactive (anaphylaxis: 2, wheezing: 2, urticaria: 2). spIgE to milk, alpha-lactalbumin, and casein, and the wheal diameter on skin prick testing were higher in the reactive group than the tolerant groups (p = 0.001, p = 0.001, p = 0.002, and p = 0.048, respectively). Receiver-operating characteristic curve analyses yielded the following cut-off values for spIgEs that would predict a reactivity to extensively heated milk; milk: 25 kU/L (area under curve, AUC: 0.981), casein: 32 kU/L (AUC: 0.983), and alpha-lactalbumin: 17 kU/L (AUC: 0.981). Nine patients have tolerated well a continued daily consumption of SUTMEK-milk or -placebo for 6 months at the desired doses. Conclusions: Our bakery products were successfully used in DBPCFC studies and qualified as an acceptable tool for use in the research of interventional tolerance induction. Although spIgE appears useful in determining children at high risk of reacting to extensively heated milk, the predictive cut-off values are still far from being perfect. (c) 2018 S. Karger AG, BaselPublication Metadata only Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia(2021) ÖZEN, AHMET OĞUZHAN; Bilgic Eltan, Sevgi; Sefer, Asena Pınar; Karakus, İbrahim Serhat; Ozen, Ahmet; Karakoc-Aydiner, Elif; Baris, SafaPublication Open Access Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome(MOSBY-ELSEVIER, 2009-12) AYDINER, ELİF; Engelhardt, Karin R.; McGhee, Sean; Winkler, Sabine; Sassi, Atfa; Woellner, Cristina; Lopez-Herrera, Gabriela; Chen, Andrew; Kim, Hong Sook; Lloret, Maria Garcia; Schulze, Ilka; Ehl, Stephan; Thiel, Jens; Pfeifer, Dietmar; Veelken, Hendrik; Niehues, Tim; Siepermann, Kathrin; Weinspach, Sebastian; Reisli, Ismail; Keles, Sevgi; Genel, Ferah; Kutuculer, Necil; Camcioglu, Yildiz; Somer, Ayper; Karakoc-Aydiner, Elif; Barlan, Isil; Gennery, Andrew; Metin, Ayse; Degerliyurt, Aydan; Pietrogrande, Maria C.; Yeganeh, Mehdi; Baz, Zeina; Al-Tamemi, Salem; Klein, Christoph; Puck, Jennifer M.; Holland, Steven M.; McCabe, Edward R. B.; Grimbacher, Bodo; Chatila, Talal A.Background: The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in STAT3, and a single patient was reported to have a homozygous TYK2 mutation. In the remaining patients with hyper-IgE syndrome, the genetic etiology has not yet been identified. Objectives: We aimed to identify a gene that is mutated or deleted in autosomal recessive hyper-IgE syndrome. Methods: We performed genome-wide single nucleotide polymorphism analysis for 9 patients with autosomal-recessive hyper-IgE syndrome to locate copy number variations and homozygous haplotypes. Homozygosity mapping was performed with 12 patients from 7 additional families. The candidate gene was analyzed by genomic and cDNA sequencing to identify causative alleles in a total of 27 patients with autosomal-recessive hyper-IgE syndrome. Results: Subtelomeric biallelic microdeletions were identified in 5 patients at the terminus of chromosome 9p. In all 5 patients, the deleted interval involved dedicator of cytokinesis 8 (DOCK8), encoding a protein implicated in the regulation of the actin cytoskeleton. Sequencing of patients without large deletions revealed 16 patients from 9 unrelated families with distinct homozygous mutations in DOCK8 causing premature termination, frameshift, splice site disruption, and single exon deletions and microdeletions. DOCK8 deficiency was associated with impaired activation of CD4(+) and CD8(+)T cells. Conclusion: Autosomal-recessive mutations in DOCK8 are responsible for many, although not all, cases of wautosomal-recessive hyper-IgE syndrome. DOCK8 disruption is associated with a phenotype of severe cellular immunodeficiency characterized by susceptibility to viral infections, atopic eczema, defective T-cell activation and T(H)17 cell differentiation, and impaired eosinophil homeostasis and dysregulation of IgE. (J Allergy Clin Immunol 2009;124:1289-302.)Publication Open Access A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8(+) T cells(2022-03-01) AYDINER, ELİF; ÖZEN, AHMET OĞUZHAN; BARIŞ, SAFA; Babayeva R., Mongellaz C., Karakus I. S., Cansever M., Bilgic Eltan S., Catak M. C., Bulutoglu A., Kendir Demirkol Y., Eser M., Karakoc-Aydiner E., et al.Patients with deficiency of zeta-chain-associated protein kinase 70 (ZAP-70) protein generally present as combined immunodeficiency (CID) with severe recurrent infections and dermatological findings during the first years of life. They also suffer from diarrhea, mainly resulting from viral agents, lymphoproliferation, and autoimmunity (autoimmune cytopenia, bullous pemphigoid, nephrotic syndrome, and adrenal insufficiency). The most striking immunological findings are severely decreased CD3+CD8+ T-cell counts with decreased proliferation. The current definitive treatment of ZAP-70 deficiency is hematopoietic stem cell transplantation (HSCT).1 To date, 52 patients with biallelic mutations in the ZAP70 gene have been described in the literature.1,2 Herein, we report a patient with a novel missense mutation in the ZAP70 who presented with atypical skin lesions and a rapid decrease in CD8+ T-cell counts on immunological evaluations between 6 and 9 months of age. Despite undetectable ZAP-70 protein, the patient did not present severe infections in the first year of life. This description expands the spectrum of disease caused by mutations in thePublication Metadata only A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency(2019) ÖZEN, AHMET OĞUZHAN; Firtina, Sinem; Cipe, Funda; Ng, Yuk Yin; Kiykim, Ayca; Ng, Ozden Hatirnaz; Sudutan, Tugce; Aydogmus, Cigdem; Baris, Safa; Ozturk, Gulyuz; Aydiner, Elif; Ozen, Ahmet; Sayitoglu, Muge