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CD19 deficiency: A village screening study
(AVES, 2009) Reisli, Ismail; Artac, Hasibe; Pekcan, Sevgi; Kara, Reyhan; Yumlu, Kadir; Karagol, Cuneyt; Cimen, Omer
Aim: We identified a new CD19 deficient case who was a relative of the first CD19 deficient patient and lived in the same village. These cases suggested that other patients with CD19 deficiency or carriers could be found in this village. The aim of this study was to assess the warning signs of primary immunodeficiency and the CD19 molecule deficiency in this population. Material and Method: The relatives of CD19 deficient patients and controls were examined for the warning signs of primary immunodeficiency using a questionnaire form Blood samples were taken from these subjects CD19 and CD21 expressions (median fluorescent intensity, MFI) were analyzed by flowcytometry in these samples. Results: A total of 208 subjects (59 families, 126 females, 82 males) including 129 children 9.5 +/- 3 7 years and 79 adults (37 13 years) were evaluated. A new case with CD19 deficiency was not detected There was at least one warning sign for immunodeficiency in 67 subjects (57 children and 10 adults) CD19 median expression value was lower than 60 MFI value in 20 subjects, which was known as in the carriers who were detected to have heterozygous mutation Conclusions: Our findings suggested that CD19 median expression might be a diagnostic tool for the subjects who have CD19 heterozygous mutations. Mutation analyses are planned for the confirmation of CD19 heterozygous mutation in these subjects who have low CD19 median expression. (Turk Arch Ped 2009; 44. 127-30)
CD19 Molekül Eksikliği: Bir Köy Taraması
(Kare Publishing, 2009) Reisli, İsmail; Artaç, Hasibe; Pekcan, Sevgi; Kara, Reyhan; Yümlü, Kadir; Karagöl, Cüneyt; Çimen, Ömer; Şen, Metin; Artaç, Mehmet
Aim: We identified a new CD19 deficient case who was a relative of the first CD19 deficient patient and lived in the same village. These cases suggested that other patients with CD19 deficiency or carriers could be found in this village. The aim of this study was to assess the warning signs of primary immunodeficiency and the CD19 molecule deficiency in this population. Material and Method: The relatives of CD19 deficient patients and controls were examined for the warning signs of primary immunode- ficiency using a questionnaire form. Blood samples were taken from these subjects. CD19 and CD21 expressions (median fluorescent intensity, MFI) were analyzed by flowcytometry in these samples. Results: A total of 208 subjects (59 families, 126 females, 82 males) including 129 children 9.5±3.7 years and 79 adults (37±13 years) were evaluated. A new case with CD19 deficiency was not detected. There was at least one warning sign for immunodeficiency in 67 subjects (57 children and 10 adults). CD19 median expression value was lower than 60 MFI value in 20 subjects, which was known as in the carriers who were detected to have heterozygous mutation. Conclusions: Our findings suggested that CD19 median expression might be a diagnostic tool for the subjects who have CD19 heterozygous mutations. Mutation analyses are planned for the confirmation of CD19 heterozygous mutation in these subjects who have low CD19 median expression.
CD19 molekül eksikliği: Bir köy taraması
(2009) Reisli, İsmail; Artaç, Hasibe; Pekcan, Sevgi; Kara, Reyhan; Yümlü, Kadir; Karagöl, Cüneyt; Çimen, Ömer
Amaç: CD19 eksikliğinin ilk kez tanımlandığı bir olgunun köyünde yaşayan ve akrabası olan bir olguda daha CD19 eksikliği tanımlandı. Bu olgular, bu köyde yaşayan başka olguların ve taşıyıcıların da olabileceğini düşündürdü. Bu amaçla köy halkı immün yetersizlik düşündüren klinik bulgular ve CD19 molekül eksikliği yönünden değerlendirildi. Gereç ve Yöntem: CD19 eksikliği olgularının akrabaları ve kontrol grubu, anket formları ile birincil immün yetersizlik hastalıklarının klinik belirtileri için sorgulandı. Olgulardan alınan kan örneklerinde, CD19 ve CD21 molekül varlığı akış sitometri ile incelendi. Bulgular: Toplam 59 aileden 129 çocuk (9,53,7 yıl) ve 79 yetişkin (3713 yıl) olmak üzere 208 olgu (126 kadın, 82 erkek) değerlendirildi. Yeni bir CD19 eksikliği olgusu saptanmadı. Anket formları ile 67 olguda (57 çocuk, 10 yetişkin) en az bir uyarıcı immün yetersizlik bulgusu vardı. CD19 mediyan ekspresyon değeri (MFI) 20 olguda, CD19 yönünden heterozigot taşıyıcı olan bireylerden elde edilen 60 MFI değerinin altındaydı. Çıkarımlar: Bulgularımız CD19 eksikliği heterozigot “taşıyıcılığı” açısından, CD19 taşıyan B lenfosit oranının değil, CD19 mediyan ekspresyon düşüklüğünün yol gösterici olduğunu düşündürmüştür. CD19 mediyan ekspresyon değerine göre taşıyıcı oldukları belirlenen bu olguların, mutasyon tetkiklerinin yapılarak taşıyıcı olduklarının doğrulanması planlanmıştır.
Değişken İmmün Yetersizlikli Çocuk Hastalarda Klinik ve Laboratuvar Özellikler
(2007) Artaç, Hasibe; Keleş, Sevgi; Kara, Reyhan; Reisli, İsmail
Değişken immün yetersizlik (DİY), bozulmuş antikor yanıtı ile belirgin, nedeni bilinmeyen birincil bir immün yetersizliktir. Bu çalışmanın amacı, DİY'li çocuk hastaların klinik ve laboratuvar özelliklerinin değerlendirilmesidir. Gereç ve Yöntem: Şubat 2002-Haziran 2006 tarihleri arasında, ortalama 29,717,4(2-51) ay, DİY tanısıyla takip ve tedavi edilen 10 çocuk hastanın dosya kayıtları gözden geçirildi. Bulgular: Hastaların yedisi kız, üçü erkek olup, tanı yaşları ortalama 9,45,1 (3-18) yıldı. Hastaların hepsi tekrarlayan alt solunum yolu enfeksiyonu nedeniyle başvurmuşlardı. Dokuz olguda kronik akciğer hastalığı mevcuttu ve bunların üçü lobektomi geçirmişti. Dört hastanın IgG düzeyi 200 mg/dl'nin altındaydı. Altı hastada en az iki immünglobulin düzeyinde azalma vardı. IgG düzeyi normal olan dört olgunun ikisinde IgA düşüklüğü ve diğer ikisinde ise IgM düşüklüğü saptandı. Tüm hastaların tanı anında B lenfosit oranı düşük bulundu (%1,6-8,9; 5,32,8). Sekiz olguda CD4/CD8 oranı tersine dönmüştü. Çıkarımlar: "Heterojen" bir immün yetersizlik olan bu hastalığın kronik akciğer hastalığı olan olgularda araştırılması gerektiğini düşünüyoruz.
Effects of desflurane, sevoflurane and propofol on phagocytosis and respiratory burst activity of human polymorphonuclear leucocytes in bronchoalveolar lavage
(LIPPINCOTT WILLIAMS & WILKINS, 2009) Erol, Atilla; Reisli, Ruhiye; Reisli, Ismail; Kara, Reyhan; Otelcioglu, Seref
Background and objective In polymorphonuclear leucocytes, phagocytosis and respiratory burst activity are mainly responsible for bacterial killing. We aimed to investigate the effects of anaesthesia with desflurane, sevoflurane and propofol on these functional activities of polymorphonuclear leucocytes in bronchoalveolar lavage fluid. Methods Sixty patients scheduled to have tympanoplasty surgery were studied. The patients were divided into three groups (group D, desflurane; group S, sevoflurane; group P, propofol). Anaesthesia was induced with propofol, fentanyl and rocuronium in all groups. Anaesthesia was maintained with inhalation agent or propofol. Bronchoalveolar lavage was performed immediately after induction of anaesthesia and after surgical procedure by a fibreoptic bronchoscope. Leucocyte respiratory burst and phagocytic activity in bronchoalveolar lavage fluid were determined by flow cytometric analysis of gated leucocyte populations within 2 h after each bronchoalveolar lavage sample. Changes in leucocyte functions with time were expressed as mean fluorescence intensity. Results There were no significant differences in phagocytic activity of polymorphonuclear leucocytes within and between the groups. The respiratory burst function of polymorphonuclear leucocytes showed a significant increase after surgery in group P (P<0.05). When we compared the differences between the three groups, we found the difference in mean fluorescence intensity as statistically significant between group P and group S. Conclusion This study showed that propofol anaesthesia increased the respiratory burst function of polymorphonuclear leucocytes in bronchoalveolar lavage fluid. Eur J Anaesthesiol 26:150-154 (c) 2009 European Society of Anaesthesiology.
Femtosecond laser induced photodynamic therapy on 5-ALA treated SKMEL-30 cells: An efficient theranostic strategy to combat melanoma
(ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER, 2014) Kars, Meltem Demirel; Kara, Reyhan; Gundogdu, Yasemin; Kepceoglu, Abdullah; Kilic, Hamdi Sukur
Purpose: Photodynamic therapy (PDT) is a type of photo-chemotherapy that is based on the application of photosensitizer and irradiation of the region by laser sources. Photosensitizer and light interaction will develop reactive oxygen radicals ( O-1(2)) in the cells and elimination of cells by apoptosis or necrosis. Methods: Metastatic skin cancer cells SKMEL-30 were treated by 5-ALA in dark and then they were irradiated by 90-femtosecond (fs) laser with different pulse powers for different durations. The effects of 5-ALA mediated photodynamic therapy on the cells were determined by XTT proliferation kit and by flow cytometry measurements of Annexin V, 7-AAD and mitochondrial membrane potential alterations. Fluorescent accumulation of protoporphyrin IX was investigated by fluorometry and confocal laser microscope. Results: The viability tests for SKMEL-30 cells treated with different 5-ALA doses and femtosecond laser power and durations demonstrated that 635 nm, 45 mW pulse energy at 90 fs laser pulse applications for 60 sec to 1 mM 5-ALA exposed cells decreased the cell proliferation by 30%. Flow cytometric measurements exhibit that PDT caused 63% of mitochondria membrane potential alteration, 30% of cell death in the population by apoptosis and 39% of cells by necrosis. There was 1 mM 5-ALA exposure that also exhibited about 32% accumulation of fluorescence in the cells. Conclusion: The pretreatment of the cells with the precursor 5-ALA lets the imaging due to increased protoporphyrin IX fluorescence. This treatment method may be proposed as an effective theranostic strategy for melanoma because of its rapid and effective anticancer consequences. (C) 2014 Elsevier Masson SAS. All rights reserved.
In Vivo Modulation of the Expressions of Fas and CD25 by Intravenous Immunoglobulin in Common Variable Immunodeficiency
(Springer-Verlag Italia Srl, 2010) Artaç, Hasibe; Kara, Reyhan; Reisli, İsmail
Although the presence of physiologic anti-CD95 (Fas, APO-1) autoantibodies in intravenous immunoglobulin (IVIG) preparations is known, the effects of these antibodies in patients with common variable immunodeficiency are unclear (CVID). The aim of the study was to assess the effects of IVIG in Fas expression, activation markers and the subsets of T cells in patients with CVID. We studied 15 cases with CVID and 10 healthy controls with no signs of immunodeficiency. The Fas expression of T cells, activation markers (CD25, CD69 and HLA-DR) and T-cell subsets were analyzed by four-color flow cytometry. We found that the Fas expression of CD3(+) T cells in patients was significantly higher than in controls. In addition, there was a significant increase in the Fas expression of CD3(+) T cells and CD4(+) T cells, and the CD25 expression of CD3(+) and CD4(+) T cells after IVIG supplementation (P < 0.05). The CD69 and HLA-DR expressions of T cells and CD8(+) T cells were not affected by IVIG infusion. Our observation showed that IVIG replacement causes an increase in the Fas and CD25 expressions in patients with CVID. These data suggest that the Fas protein may have an important role in the effects of IVIG for the control of autoimmunity in patients with CVID, as well as in the generation of autoimmune disease.
Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy
(SPRINGER-VERLAG ITALIA SRL, 2013) Artac, Hasibe; Kara, Reyhan; Gokturk, Bahar; Reisli, Ismail
We aimed to evaluate the role of the CD19 complex in the pathogenesis of transient hypogammaglobulinemia of infancy (THI) and to better characterize the subsets of memory B cells. The study population consisted of 22 male and 14 female patients with a mean age at presentation of 20 +/- A 9.9 months. The CD19 complex and B cell subsets were evaluated by flow cytometry. While the CD19 median fluorescence index (MFI) in patients with THI was significantly lower than controls (122.9 +/- A 66.7 in patients; 184.2 +/- A 39 in controls, p < 0.01), expression of CD21 and CD81 was increased (94.4 +/- A 3, 96.8 +/- A 2.5 % in patients; 91 +/- A 3.9; 94.7 +/- A 3.5 % in controls, p < 0.01 vs. p < 0.05, respectively). The expressions of switched memory B cells and IgM memory B cells were found to be reduced in THI. Considering that the CD19 complex regulates the events following antigen stimulation, the change in CD19 complex detected in THI may be related to insufficiency of antibody production.
Reduced CD19 Expression and Decreased Memory B Cell Numbers in Transient Hypogammaglobulinemia of Infancy
(Wiley-Blackwell, 2012) Artaç, Hasibe; Göktürk, Bahar; Kara, Reyhan; Reisli, İsmail
We aimed to evaluate the role of the CD19 complex in the pathogenesis of transient hypogammaglobulinemia of infancy (THI) and to better characterize the subsets of memory B cells. The study population consisted of 22 male and 14 female patients with a mean age at presentation of 20 ± 9.9 months. The CD19 complex and B cell subsets were evaluated by flow cytometry. While the CD19 median fluorescence index (MFI) in patients with THI was significantly lower than controls (122.9 ± 66.7 in patients; 184.2 ± 39 in controls, p\0.01), expression of CD21 and CD81 was increased (94.4 ± 3, 96.8 ± 2.5 % in patients; 91 ± 3.9; 94.7 ± 3.5 % in controls, p\0.01 vs. p\0.05, respectively). The expressions of switched memory B cells and IgM memory B cells were found to be reduced in THI. Considering that the CD19 complex regulates the events following antigen stimulation, the change in CD19 complex detected in THI may be related to insufficiency of antibody production.
Transient hypogammaglobulinemia and unclassified hypogammaglobulinemia: 'Similarities and differences'
(WILEY, 2010) Keles, Sevgi; Artac, Hasibe; Kara, Reyhan; Gokturk, Bahar; Ozen, Ahmet; Reisli, Ismail
Transient hypogammaglobulinemia of infancy (THI) is characterized by recurrent infections and one or more reduced serum immunoglobulin (Ig) levels. Usually, this clinical picture resolves spontaneously by 3 yr of age. However, hypogammaglobulinemia persists until adolescence in some patients. In recent years, those patients have been classified as undefined/unclassified hypogammaglobulinemia (UCH). We aimed to evaluate the clinical and immunologic features of patients with THI and UCH considering age of recovery and to assess relationships between hypogammaglobulinemia, infections, and allergic manifestations. We reviewed the medical records of children followed with a diagnosis of hypogammaglobulinemia from 2001 to 2007. Patients with decreased levels (< 2 s.d.) of one or more major Ig isotypes (IgG, IgA, IgM) with normal antibody responses and lymphocyte subpopulations were included (n = 374). Those patients whose Igs normalized during the follow-up period were classified as THI and the others as UCH. The THI group consisted of 71 patients (27 females, 44 males) with a mean recovery age of 68.87 +/- 36.5 months. About 95% of patients with THI recovered before 10 yr of age. The UCH group consisted of 303 patients (105 females, 198 males) with a mean age at diagnosis of 52 +/- 42 months. The most common presenting manifestations in the THI and UCH groups were upper respiratory tract infections (URTIs), lower respiratory tract infections, and asthma (42%, 50%, and 52% in the THI group vs. 39%, 53%, and 55% in the UCH group, respectively). In the THI group, the prevalence of atopic disease was related to age and found to be increased markedly after 44 months. In all patients, the prevalence of asthma was independently and positively associated with family history of atopy and age, whereas it was negatively associated with recurrent URTIs. Patients with THI and UCH have similar clinical and immunologic features. The normalization of Igs may be delayed in a majority of the patients with hypogammaglobulinemia. This observation may be a contribution to the classical definition and diagnostic criteria for THI.
THE VALUE OF MEAN PLATELET VOLUME/PLATELET COUNT RATIO TO PREDICT 22q11.2 DELETION SYNDROME
(SPRINGER/PLENUM PUBLISHERS, 2014) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Reisli, Ismail
[Abstract not Available]
Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
(ALLERGY IMMUNOL SOC THAILAND, 2016) Gokturk, Bahar; Guner, Sukru Nail; Kara, Reyhan; Kirac, Mine; Keles, Sevgi; Artac, Hasibe; Zamani, Ayse Gul
Background: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). Objectives: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. Methods: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. Results: Facial-dysmorphism and mental-motor retardation were detected in 100% of patients. Mean platelet (PLT) counts were lower (224,980 versus 354,000, p = 0.001), mean PLT volume (MPV) (9.95 versus 7.07, p = 0.002), and MPV/PLTx10(5) ratios (5.36 versus 2.08, p < 0.001) were higher in patients with 22q11.2 deletion compared with the control group. Area under the receiver-operator characteristic (ROC) curve was 0.864, sensitivity was 84.6%, specificity was 90.9%, positive predictive value (PPV) was 91.7%, and negative predictive value (NPV) was 83.3% when MPV was 8.6. Area under ROC curve was 0.864, sensitivity was 76.9%, specificity was 90.1%, PPV was 90.1%, and NPV was 76.3% when PLT was 265,500. Area under ROC curve was 0.906, sensitivity was 84.6%, specificity was 100%, PPV was 100%, and NPV was 84.6% when MPV/PLTx10(5) was 3.3. Expression of PLT surface markers which were not in the GPIb-V-IX receptor complex (CD61, CD41a) increased as the surface area increased, but markers which were in a complex (CD42a, CD42b) did not change. Conclusions: High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV >= 8.6fl, MPV/PLTx10(5) ratio >= 3.3 and PLT count <= 265,500/mm(3), the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.
Yaygın değişken immünyetmezliklerde bilinen genetik defektler
(2014) Kara, Reyhan; Göktürk, Bahar; Acar, Aynur
Yaygın değişken immünyetmezlik (YDİY), immünyetmezlik hastalıklarının nispeten sık görülen bir şekli olup, immünglobulin üretiminde eksiklik ve primer antikor yetmezliği ile giden heterojen bir hastalık grubudur. Son yıllarda, tanımlanan çeşitli monogenik defektlerin YDİY'in klinik ve laboratuvar bulgularındaki değişkenliği belirlediği ve immünopatogenezinde rol oynadığı anlaşılmıştır. Bu derlemede, YDİY ile ilişkili olan ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor) molekül defektleri ve bunların genetik temellerinin gözden geçirilmesi amaçlanmıştır.

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