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Öğe A comparative evaluation of clinical and laboratory findings and treatment costs for sublingual and subcutaneous immunotherapy in children with allergic rhinitis and asthma(Wiley, 2018) Eren, Seçil; Gülez, Nesrin; Karkıner, Canan Şule; Kanık, Esra Toprak; Bahçeci, Semiha; Karaman, Sait; Nacaroğlu, Hikmet Tekin; Akçal, Ömer; Genel, Ferah; Can, Demet[Abstract Not Available]Öğe CD4+CD25+CD127loFOXP3+ cell in food allergy: Does it predict anaphylaxis?(Codon Publications, 2023) Bahçeci Erdem, Semiha; Genel, Ferah; Nacaroğlu, Hikmet Tekin; Karaman, Sait; Ünsal Karkıner, Canan Şule; Sürücü, Murat; Can, DemetBackground: Food allergy (FA), hence the incidence of food anaphylaxis, is a public health problem that has increased in recent years. There are still no biomarkers for patients with FA to predict severe allergic reactions such as anaphylaxis. Objective: There is limited information on whether regulatory T (Treg) cell levels are a biomarker that predicts clinical severity in cases presenting with FA, and which patients are at a greater risk for anaphylaxis. Methods: A total of 70 children were included in the study: 25 who had IgE-mediated cow’s milk protein allergy (CMPA) and presented with non-anaphylactic symptoms (FA/A?), 16 who had IgE-mediated CMPA and presented with anaphylaxis (FA/A+) (a total of 41 FA cases), and a control group consisting of 29 children without FA. The study was conducted by performing CD4+CD25+CD127loFOXP3+ cell flow cytometric analysis during resting at least 2 weeks after the elimination diet to FA subjects. Results: When the FA group was compared with healthy control subjects, CD4+CD25+CD127loFOXP3+ cell rates were found to be significantly lower in the FA group (p < 0.001). When the FA/A? and FA/A+ groups and the control group were compared in terms of CD4+CD25+CD127loFOXP3+ cell ratios, they were significantly lower in the FA/A? and FA/A+ groups compared to the control group (p < 0.001). Conclusions: Although there was no significant difference between the FA/A+ group and the FA/ A? group in terms of CD4+CD25+CD127loFOXP3+ cells, our study is important, as it is the first pediatric study we know to investigate whether CD4+CD25+CD127loFOXP3+cells in FA p redict anaphylaxis.Öğe Characteristics of the patients followed with the diagnosis of common variable immunodeficiency and the complications(Termedia Publishing House Ltd., 2019) Erdem, Semiha Bahçeci; Gülez, Nesrin; Genel, Ferah; Karaman, Sait; Nacaro?lu, Hikmet TekinIntroduction: In this study, we aimed to retrospectively evaluate the clinical and laboratory findings and complications of 28 common variable immunodeficiency (CVID) patients. Material and methods: The clinical features and laboratory data of 28 CVID patients were evaluated. Results: Nineteen patients were male. In 53.5% of the cases, complications included inflammatory bowel disease, cytopenia, bronchiectasis, granulomatous lymphocytic interstitial lung disease (ILD) and asthma. In their immunological evaluations, IgG, IgM, and IgA mean values were 474.8 ±214.1 mg/dl; 56.7 ±41.9 mg/dl; 35.3 ±58.2 mg/dl, respectively, and the vaccine response was positive in 64.2% of the cases. In all age groups, absolute lymphocyte counts, naive (CD19+IgD+27-), nonswitch (CD19+IgD-27+) memory B cells were numerically higher when compared to the data of healthy children; however, although switch memory (CD19+IgD+27+) B cells were proportionally low in the 4-8 and 12-18 age groups, they were low both numerically and proportionally in the 8-12 age group. No statistically significant difference was found between the cases with complications and without complications. But the cases with pulmonary complications were compared within the group, the CD8 ratio was high but the IgA level was low in patients with bronchiectasis and CD3 was numerically and proportionally low in the cases with ILD compared to others. According to the Paris classification, 11/27 (40.7%) of the cases, 3/27 (11.1%) of them and 13/27 (48.2%) of them were evaluated as MB0, MB1, and MB2, respectively. Conclusions: In genetic studies, TACI (trans-membrane activator and calcium-modulating cyclophilin ligand interactor – TNFRSF13B) mutation was found positive in 25% of the cases.Öğe Impaired IL-23-dependent induction of IFN-gamma underlies mycobacterial disease in patients with inherited TYK2 deficiency(Rockefeller University Press, 2022) Ogishi, Masato; Augusto Arias, Andres; Yang, Rui; Han, Ji Eun; Zhang, Peng; Rinchai, Darawan; Halpern, Joshua; Mulwa, Jeanette; Keating, Narelle; Chrabieh, Maya; Laine, Candice; Seeleuthner, Yoann; Ramirez-Alejo, Noe; Nekooie-Marnany, Nioosha; Guennoun, Andrea; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Kılıç, Sara Şebnem; Minegishi, Yoshiyuki; Ehl, Stephan; Kaiser-Labusch, Petra; Kendir-Demirkol, Yasemin; Rozenberg, Flore; Errami, Abderrahmane; Zhang, Shen-Ying; Zhang, Qian; Bohlen, Jonathan; Puel, Anne; Jouanguy, Emmanuelle; Pourmoghaddas, Zahra; Bakhtiar, Shahrzad; Willasch, Andre M.; Horneff, Gerd; Llanora, Genevieve; Shek, Lynette P.; Chai, Louis Y. A.; Tay, Sen Hee; Rahimi, Hamid H.; Mahdaviani, Seyed Alireza; Nepesov, Serdar; Bousfiha, Aziz A.; Erdeniz, Emine Hafize; Karbuz, Adem; Marr, Nico; Navarrete, Carmen; Adeli, Mehdi; Hammarstrom, Lennart; Abolhassani, Hassan; Parvaneh, Nima; Al Muhsen, Saleh; Alosaimi, Mohammed F.; Alsohime, Fahad; Nourizadeh, Maryam; Moin, Mostafa; Arnaout, Rand; Alshareef, Saad; El-Baghdadi, Jamila; Genel, Ferah; Sherkat, Roya; Kıykım, Ayça; Yücel, Esra; Keleş, Sevgi; Bustamante, Jacinta; Abel, Laurent; Casanova, Jean-Laurent; Boisson-Dupuis, StephanieHuman cells homozygous for rare loss-of-expression (LOE) TYK2 alleles have impaired, but not abolished, cellular responses to IFN-alpha/beta (underlying viral diseases in the patients) and to IL-12 and IL-23 (underlying mycobacterial diseases). Cells homozygous for the common P1104A TYK2 allele have selectively impaired responses to IL-23 (underlying isolated mycobacterial disease). We report three new forms of TYK2 deficiency in six patients from five families homozygous for rare TYK2 alleles (R864C, G996R, G634E, or G1010D) or compound heterozygous for P1104A and a rare allele (A928V). All these missense alleles encode detectable proteins. The R864C and G1010D alleles are hypomorphic and loss-of-function (LOF), respectively, across signaling pathways. By contrast, hypomorphic G996R, G634E, and A928V mutations selectively impair responses to IL-23, like P1104A. Impairment of the IL-23-dependent induction of IFN-gamma is the only mechanism of mycobacterial disease common to patients with complete TYK2 deficiency with or without TYK2 expression, partial TYK2 deficiency across signaling pathways, or rare or common partial TYK2 deficiency specific for IL-23 signaling.Öğe Inherited classical and alternative pathway complement deficiencies in children: A single center experience(Shiraz University of Medical Sciences, 2018) Genel, Ferah; Bahçeci Erdem, Semiha; Gülez, Nesrin; Karaman, Sait; Nacaro?lu, Hikmet Tekin; Skattum, Lillemor; Truedsson, LennartBackground: Primary complement deficiencies are rare diseases. Objective: To retrospectively evaluate the clinical and laboratory findings and complications of patients to increase awareness of pediatricians about complement deficiencies, which are rarely encountered. Methods: In this study, the clinical and immunological characteristics of 21 patients who consulted the Immunology Department of our hospital between 2003 and 2017 and were diagnosed with classical or alternative pathway complement deficiency were obtained from the file records. Results: Ten patients with C1 inhibitor deficiency, four patients with factor I deficiency, three patients with properdin deficiency, two patients with C8 deficiency, one patient with C1q deficiency, and one patient with C4B deficiency were assessed. The mean age of the patients at diagnosis was 11.4±4.7 years, the age of onset of symptoms was 7.9±3.9 years, and the follow-up period was 6.7±3.9 years. Fourteen cases had a similar medical history in the family. All patients with C1q, factor I, properdin, C8, and C4B deficiencies presented with an infection, and vasculitic rash was present in two patients with factor I deficiency. In addition, immune complex glomerulonephritis was present in one patient with factor I deficiency. Meningococcal, Haemophilus influenzae type B, and pneumococcal vaccines were administered and prophylactic antibiotic treatment was initiated in all patients except patients with C1 inhibitor deficiency. Conclusions: Early diagnosis of complement deficiencies can facilitate prevention of life-threatening complications such as severe bacterial infections by considering prophylactic antibiotics and vaccines. In patients with C1 inhibitor deficiency, achieving an acurate early diagnosis will assist in the management and timely treatment of life-threatening attacks such as upper airway obstruction and improve outcomes.Öğe Late diagnosis of leukocyte adhesion deficiency type II and Bombay blood type in a child: A rare case report(Termedia Publishing House Ltd., 2019) Yaman, Yöntem; Köker, Sultan Aydın; Ayhan, Fahri Yüce; Genel, Ferah; Acıpayam, Can; Oymak, Yeşim; Sarıbeyo?lu, Ebru Tu?rul; Vergin, Canan RaziyeLeukocyte adhesion deficiency type II (LAD II) is a rare, autosomal, recessive inherited immunodeficiency disease that induces frequent and recurrent infections, persistent leukocytosis, severe mental and growth retardation, and impaired wound healing. The Bombay blood group is a rare blood group phenotype that is characterised by the deficiency of H, A, and B antigens on the surface of red cells. LAD II and the Bombay blood group are always seen together, because both of them are associated with a global defect in the common pathway of fucose metabolism. Here we report the case of an 11-year-old boy with LAD II, who presented with the Bombay blood group. Agglutination with strength of 4+ was detected in all cross-matching due to erythrocyte transfusions for our patient. Therefore, the Bombay blood group was incidentally determined due to deficient expression of the CD15 adhesion molecules on the surface of the leukocytes according to the results of flow cytometry. Upon detecting the Bombay blood type, LAD II was then diagnosed as a result of flow cytometry and the clinical findings of mental retardation and history of recurrent infections such as abscesses.Öğe Pediatric patient with both leukocyte adhesion deficiency II and bombay blood group(Ferrata Storti Foundation, 2016) Yaman, Yeşim; Aydın, Sultan; Acıpayam, Can; Sarıbeyoğlu Tuğrul, Ebru; Genel, Ferah[Abstract Not Available]
