Search Results - "Reisli, I."

Could immune cells be associated with nephropathy in Fabry disease patients? by Turkmen, K., Karaselek, M. A., Celik, S. C., Esen, H. H., Ozer, H., Baloglu, I., Ozturk, Y., Guner, S. N., Reisli, I., Keles, S.

“…Background In Fabry Disease (FD), although the primary factor initiating kidney damage is glycosphingolipid accumulation, secondary conditions such as…”
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Anaphylaxis in Turkish children: a multi-centre, retrospective, case study by Orhan, F., Canitez, Y., Bakirtas, A., Yilmaz, O., Boz, A. B., Can, D., Kuyucu, S., Harmanci, K., Tahan, F., Reisli, I., Karakas, T., Baki, A., Cokugras, H., Cakir, M., Yuksel, H.

“…Summary Background Anaphylaxis is a serious and potentially lethal systemic reaction affecting more than one organ or system. Objective We aimed to describe…”
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A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma by Gokturk, B, Casanova, J L, Picard, C, Cagdas Ayvaz, D, Erman, B, Tezcan, I, Ozdemir, H, Ozel, A, Reisli, I

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CD3G Gene Defects in Familial Autoimmune Thyroiditis by Gokturk, B., Keles, S., Kirac, M., Artac, H., Tokgoz, H., Guner, S. N., Caliskan, U., Caliskaner, Z., Burg, M., Dongen, J., Morgan, N. V., Reisli, I.

“…The patients with CD3γ deficiency can present with different clinical findings despite having the same homozygous mutation. We report three new…”
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) by Hagleitner, M M, Lankester, A, Maraschio, P, Hultén, M, Fryns, J P, Schuetz, C, Gimelli, G, Davies, E G, Gennery, A, Belohradsky, B H, de Groot, R, Gerritsen, E J A, Mattina, T, Howard, P J, Fasth, A, Reisli, I, Furthner, D, Slatter, M A, Cant, A J, Cazzola, G, van Dijken, P J, van Deuren, M, de Greef, J C, van der Maarel, S M, Weemaes, C M R

“…Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism,…”
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The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database by Schatorjé, E. J. H., Gathmann, B., Hout, R. W. N. M., Vries, E., Alsina, L, Baumann, U, Belohradsky, BH, Bienemann, K, Boardman, B, Borte, M, Bredius, RG, Brodszki, N, Caracseghi, F, Ciznar, P, Vries, E, Driessen, GJ, Dückers, G, Duppenthaler, A, Farmaki, E, Galal, N, Gennery, A, Gonzalez‐Granado, LI, Hlavackova, E, Hoernes, M, Kilic, SS, Krüger, R, Kuijpers, TW, Kütükcüler, N, Llobet, P, Marques, L, Montfrans, JM, Papadopoulou‐Alataki, E, Paschenko, O, Pasic, S, Pietrogrande, MC, Pignata, C, Reda, SM, Reisli, I, Roesler, J, Santos, JL, Schölvinck, EH, Schulze, Ilka, Seidel, MG, Shcherbina, A, Sundin, M, Szaflarska, A, Velbri, S, Warnatz, K, Warris, A

“…Summary Hypogammaglobulinaemias are the most common primary immunodeficiency diseases. This group of diseases is very heterogeneous, and little is known about…”
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B-cell maturation and antibody responses in individuals carrying a mutated CD19 allele by Artac, H, Reisli, I, Kara, R, Pico-Knijnenburg, I, Adin-Çinar, S, Pekcan, S, Jol-van der Zijde, C M, van Tol, M J D, Bakker-Jonges, L E, van Dongen, J J M, van der Burg, M, van Zelm, M C

“…Homozygous CD19 mutations lead to an antibody deficiency due to disruption of the CD19 complex and consequent impaired signaling by the B-cell antigen…”
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Vernal keratoconjunctivitis—A rare but serious comorbidity of allergic rhinitis and eustachian tube dysfunction by Bozkurt, M.K, Bozkurt, B, Artac, H, Arslan, N, Reisli, I

“…Abstract Objective To determine the prevalence of symptoms and signs of allergic rhinitis (AR) in children with vernal keratoconjunctivitis (VKC) and evaluate…”
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Narrow-band ultraviolet B phototherapy for the treatment of vitiligo: evidence against an autoimmune pathogenesis by Engin, B, Baysal, I, Reisli, I, Özdemir, M, Toy, H

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DOCK8 Deletions and Mutations Are Associated With The Autosomal Recessive Hyper-IgE Phenotype by McGhee, S.A, Engelhardt, K, Winkler, S, Sassi, A, Woellner, C, Lopez-Herrera, G, Chen, A, Kim, H, Lloret, M. Garcia, Schulze, I, Ehl, S, Thiel, J, Pfeifer, D, Veelken, H, Niehues, T, Siepermann, K, Weinspach, S, Reisli, I, Keles, S, Genel, F, Kütükçüler, N, Camcioglu, Y, Somer, A, Karakoc-Aydiner, E, Barlan, I

“…Genomic copy number variants are an important, newly appreciated mechanism underlying primary immune deficiency and can provide clues for disease gene…”
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Influence of education on primary care physicians' knowledge on childhood allergy as a systemic disease and the atopic march by Yilmaz, O, Reisli, I, Tahan, F, Orhan, F, Boz, A B, Yuksel, H

“…There are many educational events for physicians in different countries covering one or some of the allergic diseases. Most of these educational events have…”
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An intensive approach to the treatment of disseminated BCG infection in a SCID patient by IKINCIOGULLARI, A, DOGU, F, CIFTCI, E, ÜNAL, E, ERTEM, M, REISLI, I, ADIYAMAN, S, YILDIRAN, S. T, EREKUL, S, BABACAN, E

“…There is an appreciable mortality associated with BMT in patients with SCID and advanced BCG infection. We present a girl with T-B+ SCID complicated by spina…”
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Esophageal cyst applied with asthma clinic by Pekcan, S, Aslan, E, Keles, S, Artac, H, Reisli, I, Odev, K, Arıbas, O

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Down syndrome associated with severe combined immunodeficiency: a case report by Yildirim, M S, Artac, H, Reisli, I

“…An 8-month-old boy was admitted to the hospital because of recurrent bronchopneumonia and gastrointestinal tract infections. On physical examination, he had…”
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DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency by Volk, Timo, Pannicke, Ulrich, Reisli, Ismail, Bulashevska, Alla, Ritter, Julia, Björkman, Andrea, Schäffer, Alejandro A, Fliegauf, Manfred, Sayar, Esra H, Salzer, Ulrich, Fisch, Paul, Pfeifer, Dietmar, Di Virgilio, Michela, Cao, Hongzhi, Yang, Fang, Zimmermann, Karin, Keles, Sevgi, Caliskaner, Zafer, Güner, S Ükrü, Schindler, Detlev, Hammarström, Lennart, Rizzi, Marta, Hummel, Michael, Pan-Hammarström, Qiang, Schwarz, Klaus, Grimbacher, Bodo

“…Null mutations in genes involved in V(D)J recombination cause a block in B- and T-cell development, clinically presenting as severe combined immunodeficiency…”
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The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity by Baris, Safa, Abolhassani, Hassan, Massaad, Michel J., Al-Nesf, Maryam, Chavoshzadeh, Zahra, Keles, Sevgi, Reisli, Ismail, Tahiat, Azzeddine, Shendi, Hiba Mohammad, Elaziz, Dalia Abd, Belaid, Brahim, Al Dhaheri, Fatima, Haskologlu, Sule, Dogu, Figen, Ben-Mustapha, Imen, Sobh, Ali, Galal, Nermeen, Meshaal, Safa, Elhawary, Rabab, El-marsafy, Aisha, Alroqi, Fayhan J., Al-Saud, Bandar, Al-Ahmad, Mona, Al Farsi, Tariq, AL Sukaiti, Nashat, Al-Tamemi, Salem, Mehawej, Cybel, Dbaibo, Ghassan, ElGhazali, Gehad, Kilic, Sara Sebnem, Genel, Ferah, Kiykim, Ayca, Musabak, Ugur, Artac, Hasibe, Guner, Sukru Nail, Boukari, Rachida, Djidjik, Reda, Kechout, Nadia, Cagdas, Deniz, El-Sayed, Zeinab Awad, Karakoc-Aydiner, Elif, Alzyoud, Raed, Barbouche, Mohamed Ridha, Adeli, Mehdi, Wakim, Rima Hanna, Reda, Shereen M., Ikinciogullari, Aydan, Ozen, Ahmet, Bousfiha, Aziz, Al-Mousa, Hamoud, Rezaei, Nima, Al-Herz, Waleed, Geha, Raif S.

“…Human inborn errors of immunity (IEI) are a group of 485 distinct genetic disorders affecting children and adults. Signs and symptoms of IEI are heterogeneous,…”
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European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 by Gathmann, B, Grimbacher, B, Beauté, J, Dudoit, Y, Mahlaoui, N, Fischer, A, Knerr, V, Kindle, G

“…Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis…”
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Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report by Gokturk, B., Artac, H., van Eggermond, M. J., van den Elsen, P., Reisli, İ.

“…Summary Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with…”
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A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4–Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma by Gokturk, B, Casanova, JL, Picard, C, Ayvaz, D Cagdas, Erman, B, Tezcan, I, Ozdemir, H, Ozel, A, Reisli, I

“…Interleukin-1 receptor–associated kinase-4 (IRAK-4) deficiency (OMIM 607676) is an autosomal recessive disorder. Patients with IRAK-4 deficiency have been…”
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Systemic Atopy and Immunoglobulin Deficiency in Turkish Patients with Vernal Keratoconjunctivitis by Bozkurt, Banu, Artac, Hasibe, Arslan, Nasha, Gokturk, Bahar, Bozkurt, Mete Kaan, Reisli, Ismail, Irkec, Murat

“…Purpose: To determine the prevalence of systemic atopy and immunoglobulin (Ig) deficiencies in vernal keratoconjunctivitis (VKC). Methods: Sixty-seven VKC…”
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