Search Results - "Karakukcu, M"

Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT by Schuetz, C., Gerke, J., Ege, M., Walter, J., Kusters, M., Worth, A., Kanakry, J. A., Dimitrova, D., Wolska-Kuśnierz, B., Chen, K., Unal, E., Karakukcu, M., Pashchenko, O., Leiding, J., Kawai, T., Amrolia, P. J., Berghuis, D., Buechner, J., Buchbinder, D., Cowan, M. J., Gennery, A. R., Güngör, T., Heimall, J., Miano, M., Meyts, I., Morris, E. C., Rivière, J., Sharapova, S. O., Shaw, P. J., Slatter, M., Honig, M., Veys, P., Fischer, A., Cavazzana, M., Moshous, D., Schulz, A., Albert, M. H., Puck, J. M., Lankester, A. C., Notarangelo, L. D., Neven, B.

“…•Infections, autoimmunity, and granuloma predispose to organ damage prior HSCT, thereby compromising survival and quality of immune reconstitution.•In patients…”
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CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY by Patiroglu, T, Klein, C, Gungor, H Eke, Ozdemir, M A, Witzel, M, Karakukcu, M, Sawalle-Belohradsky, J, Conca, R, Unal, E

“…The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by micro-thrombocytopenia, eczema, and recurrent infections. We aimed to share…”
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PARTIAL OCULOCUTANEOUS ALBINISM AND IMMUNODEFICIENCY SYNDROMES: TEN YEARS EXPERIENCE FROM A SINGLE CENTER IN TURKEY by Patiroglu, T, Akar, H H, Unal, E, Chiang, S C, Schlums, H, Tesi, B, Ozkars, M Y, Karakukcu, M

“…Partial oculocutaneous albinism and immunodeficiency (OCA-ID) diseases are autosomal recessive syndromes characterized by partial hypopigmentation and…”
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New αIIbβ3 variants in 28 Turkish Glanzmann patients; structural hypothesis for complex activation by residues variations in I-EGF domains by Koker, M Y, Sarper, N, Albayrak, C, Zulfikar, B, Zengin, E, Saraymen, B, Albayrak, D, Koc, B, Avcilar, H, Karakükcü, M, Chenet, C, Bianchi, F, de Brevern, A G, Petermann, R, Jallu, V

“…Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder characterized by impaired platelet aggregation due to defects in integrin αIIbβ3,…”
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Is pentoxifylline therapy effective for the treatment of acute rheumatic carditis? A pilot study by Narin, N, Karakukcu, M, Narin, F, Akcakus, M, Erez, R, Halici, C

“…Objective:  The aim of the present study was to determine whether pentoxifylline has a beneficial effect on the treatment of rheumatic carditis. Methods:  A…”
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PB1670 ANXIETY, DEPRESSION, SELF‐ESTEEM, AND ATTITUDE TOWARD ILLNESS AMONG CHILDREN WITH LEUKEMIA AND LYMPHOMA IN REMISSION by Yılmaz, O., Zehra, B., Torun, Y. Altuner, Karakukcu, M.

“…Background: Late physical, psychosocial, and neuro‐cognitive effects and associated problems seen in children who are in remission during leukemia and lymphoma…”
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A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma by Cansever, Murat, Zietara, Natalia, Chiang, Samuel C.C., Ozcan, Alper, Yilmaz, Ebru, Karakukcu, Musa, Rohlfs, Meino, Somekh, Ido, Canoz, Ozlem, Abdulrezzak, Ummuhan, Bryceson, Yenan, Klein, Christoph, Unal, Ekrem, Patiroglu, Turkan

“…Gain of function mutations in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) classified as activated phosphoinositide 3-kinase…”
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A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease by Patiroglu, Turkan, Haluk Akar, H, Gilmour, Kimberly, Unal, Ekrem, Akif Ozdemir, M, Bibi, Shahnaz, Burns, Siobhan, Chiang, Samuel C, Schlums, Henrich, Bryceson, Yenan T, Karakukcu, Musa

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PB1970 AUOTOIMMUNE HEMOLITIC ANEMIA (AIHA) IN CHILDHOOD. IS PRIMARY IMMUNE DISORDERS MORE OFTEN THAN EXPECTED IN ETIOLOGY OF SECONDARY AIHA by Patiroglu, T., Alper, O., Cansever, M., Unal, E., Yilmaz, E., Karakukcu, M.

“…Background: Auotoimmune hemolitic anemia (AIHA) results from redcell destruction due to circulating antibodies against redcell membrane antigens. They are…”
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PB1860 A TURKISH CHILD PRESENTED WITH NEONATAL THROMBOCYTOPENIA ASSOCIATED WITH GNE MUTATION WITHOUT ASSOCIATED MUSCLE WASTING by Yilmaz, E., Ozcan, A., Verboon, J.M., Karakukcu, M., Sankaran, V.G., Unal, E., Patıroglu, T.

“…Background: Mutations in the glucosamine (UDP‐N‐acetyl)‐2‐epimerase/N‐acetyl mannosamine kinase (GNE) gene have previously reported in children with myopathy,…”
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PB1974 PYRUVATE KINASE DEFICIENCY IN FOUR CHILDREN WITH TWO UNPUBLISHED MUTATIONS by Unal, E., Gok, V., Roy, N.B.A., Hipkiss, R., Howard, K., Ozcan, A., Yilmaz, E., Karakukcu, M., Henderson, S., Patıroglu, T.

“…Background: Pyruvate kinase is a key enzyme of anaerobic glycolysis which helps keeping the energy level of red blood cells and their viability in circulation…”
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ABSTRACT 751: EVALUATION OF VITAMIN E, SELENIUM, GLUTATHIONE PEROXIDASE ACTIVITY IN DISSEMINATINATED INTRAVASCULAR COAGULATION by Akyldz, B., karakukcu, M., Kendirci, M., Muhtaroglu, S., Aydin, S., Yilmaz, I., Ozsoylu, S.

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Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III by Bakhtiar, Shahrzad, Salzmann-Manrique, Emilia, Blok, Henric-Jan, Eikema, Dirk-Jan, Hazelaar, Sheree, Ayas, Mouhab, Toren, Amos, Goldstein, Gal, Moshous, Despina, Locatelli, Franco, Merli, Pietro, Michel, Gerard, Öztürk, Gülyüz, Schulz, Ansgar, Heilmann, Carsten, Ifversen, Marianne, Wynn, Rob F., Aleinikova, Olga, Bertrand, Yves, Tbakhi, Abdelghani, Veys, Paul, Karakukcu, Musa, Kupesiz, Alphan, Ghavamzadeh, Ardeshir, Handgretinger, Rupert, Unal, Emel, Perez-Martinez, Antonio, Gokce, Muge, Porta, Fulvio, Aksu, Tekin, Karasu, Gülsün, Badell, Isabel, Ljungman, Per, Skorobogatova, Elena, Yesilipek, Akif, Zuckerman, Tsila, Bredius, Robbert R.G., Stepensky, Polina, Shadur, Bella, Slatter, Mary, Gennery, Andrew R., Albert, Michael H., Bader, Peter, Lankester, Arjan

“…Type I and III leukocyte adhesion deficiencies (LADs) are primary immunodeficiency disorders resulting in early death due to infections and additional bleeding…”
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PB1865 SINUS BRADYCARDIA AS A SIGN OF CENTRAL NERVOUS SYSTEM INVOLVEMENT IN A CHILD WITH GRISCELLI SYNDROME TYPE 2 by Kilic, O., Ay Tuncel, D., Gorkem, B.S., Ozcan, A., Akyol, S., Yuregir, O.O., Pamukcu, O., Unal, E., Karakukcu, M., Patıroglu, T.

“…Background: Hemophagocytic syndrome is often fatal in Griscelli syndrome type 2, and the only cure is hematopoietic stem cell transplantation. Aims: We aimed…”
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A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct by Ciraci, Saliha, Ozcan, Alper, Ozdemir, Mustafa M, Chiang, Samuel C C, Tesi, Bianca, Ozdemir, Akif M, Karakukcu, Musa, Patiroglu, Turkan, Acipayam, Can, Doganay, Selim, Gumus, Hakan, Unal, Ekrem

“…Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can…”
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Tuberculosis After Hematopoietic Stem Cell Transplantation: Retrospective Study of Infectious Diseases Working Party EBMT by Drozd-Sokolowska, J, Tridello, G, Kozijn, AE, Karakukcu, M, Ben Abdeljelil, N, Kroger, N, Passweg, J, Aljurf, M, Colita, A, Atay, D, Tanase, A, Vazquez, L, Piekarska, A, Faraci, M, Elverdi, T, Carlson, K, McQuaker, G, Snowden, JA, Labussiere-Wallet, H, Patrick, K, Jindra, P, Al Zahrani, M, Bolaman, Z, Waszczuk-Gajda, A, Baurmann, H, Krivan, G, Broers, AEC, Blennow, O, Basak, GW, Knelange, N, Averbuch, D, Gil, L, Mikulska, M, Styczynski, J

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Pancytopenia, a rare hematologic manifestation of brucellosis in children by Karakukcu, Musa, Patiroglu, Turkan, Ozdemir, Mehmet Akif, Gunes, Tamer, Gumus, Hakan, Karakukcu, Cigdem

“…The records of 54 children with brucellosis were evaluated retrospectively. Among them, eight patients (14.8%) with pancytopenia were identified in a 7-year…”
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A CASE REPORT OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS WITH CNS DEMYELINATION COMPLICATED WITH THROMBOSIS by Ciraci, S, Ozcan, A, Ozdemir, MM, Chiang, SCC, Tesi, B, Ozdemir, MA, Karakukcu, M, Patiroglu, T, Doganay, S, Gumus, H, Brysecon, YT, Unal, E

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International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome by Dimitrova, Dimana, Nademi, Zohreh, Maccari, Maria Elena, Ehl, Stephan, Uzel, Gulbu, Tomoda, Takahiro, Okano, Tsubasa, Imai, Kohsuke, Carpenter, Benjamin, Ip, Winnie, Rao, Kanchan, Worth, Austen J.J., Laberko, Alexandra, Mukhina, Anna, Néven, Bénédicte, Moshous, Despina, Speckmann, Carsten, Warnatz, Klaus, Wehr, Claudia, Abolhassani, Hassan, Aghamohammadi, Asghar, Bleesing, Jacob J., Dara, Jasmeen, Dvorak, Christopher C., Ghosh, Sujal, Kang, Hyoung Jin, Markelj, Gašper, Modi, Arunkumar, Bayer, Diana K., Notarangelo, Luigi D., Schulz, Ansgar, Garcia-Prat, Marina, Soler-Palacín, Pere, Karakükcü, Musa, Yilmaz, Ebru, Gambineri, Eleonora, Menconi, Mariacristina, Masmas, Tania N., Holm, Mette, Bonfim, Carmem, Prando, Carolina, Hughes, Stephen, Jolles, Stephen, Morris, Emma C., Kapoor, Neena, Koltan, Sylwia, Paneesha, Shankara, Steward, Colin, Wynn, Robert, Duffner, Ulrich, Gennery, Andrew R., Lankester, Arjan C., Slatter, Mary, Kanakry, Jennifer A.

“…Activated phosphoinositide 3-kinase delta syndrome (APDS) is a combined immunodeficiency with a heterogeneous phenotype considered reversible by allogeneic…”
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Bilateral macular hemorrhage associated with autoimmune hemolytic anemia by Oner, Ayse, Ozkiris, Abdullah, Dogan, Hakki, Erkilic, Kuddusi, Karakukcu, Musa

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