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    Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor ?1 Deficiency
    (Oxford Univ Press Inc, 2014) Ouederni, Monia; Sanal, Ozden; Ikinciogullari, Aydan; Tezcan, Ilhan; Dogu, Figen; Sologuren, Ithaisa; Pedraza-Sanchez, Sigifredo
    Background. Interleukin 12R beta 1 (IL-12R beta 1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon gamma production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12R beta 1 deficiency. Results. Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age +/- standard deviation, 1.5 +/- 7.87 years) than infections with environmental mycobacteria (4.29 +/- 11.9 years), Mycobacterium tuberculosis (4 +/- 3.12 years), or Salmonella species (4.58 +/- 4.17 years) or other rare infections (3 +/- 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guerin. Conclusions. Patients who are deficient in IL-12R beta 1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients.
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    The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country
    (Bilimsel Tip Yayinevi, 2013) Filiz, Serkan; Uygun, Dilara Fatma Kocacik; Sanal, Ozden; Camcioglu, Yildiz; Somer, Ayper; Barlan, Isil; Kilic, Sebnem
    Objective: Chronic granulomatous disease (CGD) is a genetically heterogeneous primary immunodeficiency that is characterised by bacteria and fungal infections with defective phagocytosis. Interferon-gamma (INF-gamma) has diverse roles in the innate and adaptive responses. Despite several decades of work on INF-gamma treatment in CGD, contraversy remains about its use. Materials and Methods: Fifty seven patients with CGD from 14 immunology centers were enrolled to our multi-center study. A questionnaire including patients demographic datas and clinical manifestations such as infectious and granulomatous complications up to enrolment was obtained before and after INF-gamma therapy. Results: Fifty seven patients 14 (25%) girls and 34 (75%) boys aged from 2-35 years (mean age: 10.9 +/- 7.4) were enrolled. The mean age of diagnosis were 4.9 +/- 4.8 (0.1-19). 56% of the patient's family had consanguineous marriage and 60% had a primary immunodeficiency (PID) history. Ninety five of the patients were treated with trimethoprim-sulfamethoxazole (TMP-SMX) and 89.5% of them with itraconazol while 60% of them were received INF-gamma treatment. The patients receiving INF-gamma therapy tend to have lower infectious complications like severe infections, pneumonia, soft tissue infections and lymphadenitis. Aspergillus infection, tissue abcesses and granulomatous complications were also lower in this group. The annual infectious complications according to CGD subtypes, were also lower in gp91(phox) with receiving INF-gamma therapy. Conclusion: The demographic and clinical data of CGD patients in our study indicate that INF-gamma prophylaxis treatment decreases the infectious and granulomatous complications in some majority of CGD patients especially in gp91(phox)
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    A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency
    (Springer/Plenum Publishers, 2013) Santos-Valente, Elisangela; Reisli, Ismail; Artac, Hasibe; Ott, Raphael; Sanal, Ozden; Boztug, Kaan
    Purpose Immunological and molecular evaluation of a patient presenting with recurrent infections caused by Streptococcus pneumoniae and low complement component 3 (C3) levels. Methods Immunological evaluation included complement components and immunoglobulin level quantification as well as number and function of T cells, B cells and neutrophils. Serotype-specific immunoglobulin G antibodies against S. pneumoniae capsular polysaccharides were quantified by ELISA in serum samples before and after vaccination with unconjugated polysaccharide vaccine. For the molecular analysis, genomic DNA from the patient and parents were isolated and all exons as well as exon-intron boundaries of the C3 gene were sequenced by Sanger sequencing. Results A 16-year-old male, born to consanguineous parents, presented with recurrent episodes of pneumonia caused by S. pneumoniae and bronchiectasis. The patient showed severely reduced C3 and immunoglobulin A levels, while the parents showed moderately reduced levels of C3. Mutational analysis revealed a novel, homozygous missense mutation in the C3 gene (c. C4554G, p. Cys1518Trp), substituting a highly conserved amino acid in the C345C domain of C3 and interrupting one of its disulfide bonds. Both parents were found to be carriers of the affected allele. Vaccination against S. pneumoniae resulted in considerable clinical improvement. Conclusions We report a novel homozygous mutation in the C3 gene in a patient with concomitant selective IgA deficiency who presented with a marked clinical improvement after vaccination against S. pneumoniae. This observation underlines the notion that vaccination against this microorganism is an important strategy for treatment of PID patients, particularly those presenting with increased susceptibility to infections caused by this agent.