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Items: 1 to 50 of 173

1.

ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes.

Akgun-Dogan O, Simsek-Kiper PO, Taskiran E, Lissewski C, Brinkmann J, Schanze D, Göçmen R, Cagdas D, Bilginer Y, Utine GE, Zenker M, Ozen S, Tezcan İ, Alikasifoglu M, Boduroğlu K.

Am J Med Genet A. 2019 Oct 4. doi: 10.1002/ajmg.a.61363. [Epub ahead of print]

PMID:
31584751
2.

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

Cagdas D, Halaçlı SO, Tan Ç, Lo B, Çetinkaya PG, Esenboğa S, Karaatmaca B, Matthews H, Balcı-Hayta B, Arıkoğlu T, Ezgü F, Aladağ E, Saltık-Temizel İN, Demir H, Kuşkonmaz B, Okur V, Gümrük F, Göker H, Çetinkaya D, Boztuğ K, Lenardo M, Sanal Ö, Tezcan İ.

J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6. Epub 2019 Aug 20.

PMID:
31432443
3.

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2.

Özen S, Batu ED, Taşkıran EZ, Özkara HA, Ünal Ş, Güleray N, Erden A, Karadağ Ö, Gümrük F, Çetin M, Sönmez HE, Bilginer Y, Ayvaz DÇ, Tezcan I.

J Rheumatol. 2019 May 1. pii: jrheum.181384. doi: 10.3899/jrheum.181384. [Epub ahead of print]

PMID:
31043544
4.

Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency.

Okur FV, Kuskonmaz B, Cagdas D, Tezcan I, Uckan-Cetinkaya D.

Clin Immunol. 2019 Jun;203:162-165. doi: 10.1016/j.clim.2019.04.011. Epub 2019 Apr 23. No abstract available.

PMID:
31026575
5.

Clinical Features and HSCT Outcome for SCID in Turkey.

Ikinciogullari A, Cagdas D, Dogu F, Tugrul T, Karasu G, Haskologlu S, Aksoylar S, Uygun V, Kupesiz A, Yildiran A, Gursel O, Ates C, Elhan A, Kansoy S, Yesilipek A, Tezcan I; Turkish Pediatric Bone Marrow Transplantation Sub Group (TPBMT-SG).

J Clin Immunol. 2019 Apr;39(3):316-323. doi: 10.1007/s10875-019-00610-x. Epub 2019 Mar 28.

PMID:
30924026
6.

Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss.

Gür-Çetinkaya P, Çağdaş-Ayvaz DN, Öksüz AB, Ertoy A, Hayran U, Özkan F, Erol M, Tezcan İ.

Turk J Pediatr. 2018;60(3):270-276. doi: 10.24953/turkjped.2018.03.006.

7.

Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.

Shahin T, Aschenbrenner D, Cagdas D, Bal SK, Conde CD, Garncarz W, Medgyesi D, Schwerd T, Karaatmaca B, Cetinkaya PG, Esenboga S, Twigg SRF, Cant A, Wilkie AOM, Tezcan I, Uhlig HH, Boztug K.

Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11.

8.

Effects of oral prophylaxis including tongue cleaning on halitosis and gingival inflammation in gingivitis patients-a randomized controlled clinical trial.

Acar B, Berker E, Tan Ç, İlarslan YD, Tekçiçek M, Tezcan İ.

Clin Oral Investig. 2019 Apr;23(4):1829-1836. doi: 10.1007/s00784-018-2617-5. Epub 2018 Sep 13.

PMID:
30218226
9.

B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy.

Eroglu FK, Aerts Kaya F, Cagdas D, Özgür TT, Yılmaz T, Tezcan İ, Sanal Ö.

Scand J Immunol. 2018 Oct;88(4):e12709. doi: 10.1111/sji.12709.

10.

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Esenboga S, Akal C, Karaatmaca B, Erman B, Dogan S, Orhan D, Boztug K, Ayvaz D, Tezcan İ.

Clin Immunol. 2018 Dec;197:1-5. doi: 10.1016/j.clim.2018.08.002. Epub 2018 Aug 16. Review.

PMID:
30121298
11.

A Novel Homozygous Mutation With Different Clinical Presentations in 2 IRAK-4-Deficient Siblings: First Case With Recurrent Salmonellosis and Non-Hodgkin Lymphoma.

Gokturk B, Casanova JL, Picard C, Cagdas Ayvaz D, Erman B, Tezcan I, Ozdemir H, Ozel A, Reisli I.

J Investig Allergol Clin Immunol. 2018 Aug;28(4):271-273. doi: 10.18176/jiaci.0261. No abstract available.

12.

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Cagdas D, Gur Cetinkaya P, Karaatmaca B, Esenboga S, Tan C, Yılmaz T, Gümüş E, Barış S, Kuşkonmaz B, Ozgur TT, Bali P, Santisteban I, Orhan D, Yüce A, Cetinkaya D, Boztug K, Hershfield M, Sanal O, Tezcan İ.

J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9. Epub 2018 May 9.

PMID:
29744787
13.

Tumor necrosis factor α-308 G/A and interleukin 1 β-511 C/T gene polymorphisms in patients with scarring acne.

Akoglu G, Tan C, Ayvaz DC, Tezcan I.

J Cosmet Dermatol. 2019 Feb;18(1):395-400. doi: 10.1111/jocd.12558. Epub 2018 Apr 19.

PMID:
29675912
14.

A Rare Cause of Secondary Immunodeficiency: Generalized Lymphatic Anomaly.

Esenboga S, Çagdas D, Oguz B, Bajin I, Aydin B, Akyuz C, Tezcan I.

J Pediatr Hematol Oncol. 2018 Apr;40(3):248-251. doi: 10.1097/MPH.0000000000001101. No abstract available.

PMID:
29432311
15.

Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.

Esenboga S, Cagdas D, Ozgur TT, Gur Cetinkaya P, Turkdemir LM, Sanal O, VanDerBurg M, Tezcan I.

Scand J Immunol. 2018 Mar;87(3). doi: 10.1111/sji.12647.

16.

Neurologic Involvement in Primary Immunodeficiency Disorders.

Yildirim M, Ayvaz DC, Konuskan B, Gocmen R, Tezcan I, Topcu M, Topaloglu H, Anlar B.

J Child Neurol. 2018 Apr;33(5):320-328. doi: 10.1177/0883073817754176. Epub 2018 Feb 8.

PMID:
29421957
17.

A young girl with severe cerebral fungal infection due to card 9 deficiency.

Cetinkaya PG, Ayvaz DC, Karaatmaca B, Gocmen R, Söylemezoğlu F, Bainter W, Chou J, Chatila TA, Tezcan I.

Clin Immunol. 2018 Jun;191:21-26. doi: 10.1016/j.clim.2018.01.002. Epub 2018 Jan 4.

PMID:
29307770
18.

Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome.

Kuşkonmaz B, Ayvaz D, Tezcan İ, Yüce A, Sanal Ö, Çetinkaya DU.

Bone Marrow Transplant. 2018 Mar;53(3):339-343. doi: 10.1038/s41409-017-0040-1. Epub 2017 Dec 21. No abstract available.

PMID:
29269803
19.

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis.

Taşkıran EZ, Sönmez HE, Ayvaz DÇ, Koşukcu C, Batu ED, Esenboğa S, Topaloğlu R, Orhan D, Bilginer Y, Alikaşifoğlu M, Özen S, Tezcan İ.

Clin Immunol. 2018 Feb;187:92-94. doi: 10.1016/j.clim.2017.10.010. Epub 2017 Nov 7. No abstract available.

PMID:
29107076
20.

Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.

Kuskonmaz B, Ayvaz D, Gokce M, Ozgur TT, Okur FV, Cetin M, Tezcan I, Uckan Cetinkaya D.

Pediatr Transplant. 2017 Nov;21(7). doi: 10.1111/petr.13040. Epub 2017 Aug 23.

PMID:
28836324
21.

Acute myeloid leukemia in a child with dedicator of cytokinesis 8 (DOCK8) deficiency.

Kuşkonmaz B, Ayvaz D, Barış S, Ünal Ş, Tezcan İ, Uçkan D.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26695. Epub 2017 Jun 19. No abstract available.

PMID:
28627091
22.

Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD.

Esenboga S, Emiralioglu N, Cagdas D, Erman B, De Boer M, Oguz B, Kiper N, Tezcan İ.

J Clin Immunol. 2017 Apr;37(3):269-272. doi: 10.1007/s10875-017-0376-8. Epub 2017 Feb 21.

PMID:
28224353
23.

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature.

Hanalioglu D, Ayvaz DC, Ozgur TT, van der Burg M, Sanal O, Tezcan I.

Clin Immunol. 2017 May;178:74-78. doi: 10.1016/j.clim.2017.01.011. Epub 2017 Feb 2. Review.

PMID:
28161407
24.

Investigation of Genetic Defects in Severe Combined Immunodeficiency Patients from Turkey by Targeted Sequencing.

Erman B, Bilic I, Hirschmugl T, Salzer E, Boztug H, Sanal Ö, Çağdaş Ayvaz D, Tezcan I, Boztug K.

Scand J Immunol. 2017 Mar;85(3):227-234. doi: 10.1111/sji.12523.

25.

Defective pneumococcal antibody response in patients with recurrent respiratory tract infections.

Erman B, Demirtaş D, Bildik HN, Çağdaş-Ayvaz D, Sanal Ö, Tezcan İ.

Turk J Pediatr. 2017;59(5):555-560. doi: 10.24953/turkjped.2017.05.008.

26.

Low T Cell Numbers Resembling T-B+ SCID in a Patient with Wiskott-Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations.

Cagdas D, Aytac S, Kuskonmaz B, Ariga T, van der Burg M, Cetinkaya DU, Sanal Ö, Tezcan İ.

J Clin Immunol. 2017 Jan;37(1):18-21. doi: 10.1007/s10875-016-0356-4. Epub 2016 Nov 30. No abstract available.

PMID:
27900584
27.

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

Salzer E, Cagdas D, Hons M, Mace EM, Garncarz W, Petronczki ÖY, Platzer R, Pfajfer L, Bilic I, Ban SA, Willmann KL, Mukherjee M, Supper V, Hsu HT, Banerjee PP, Sinha P, McClanahan F, Zlabinger GJ, Pickl WF, Gribben JG, Stockinger H, Bennett KL, Huppa JB, Dupré L, Sanal Ö, Jäger U, Sixt M, Tezcan I, Orange JS, Boztug K.

Nat Immunol. 2016 Dec;17(12):1352-1360. doi: 10.1038/ni.3575. Epub 2016 Oct 24.

28.

Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other.

Çağdaş D, Erman B, Hanoğlu D, Tavil B, Kuşkonmaz B, Aydın B, Akyüz C, Uçkan D, Sanal Ö, Tezcan I.

Bone Marrow Transplant. 2017 Jan;52(1):126-129. doi: 10.1038/bmt.2016.185. Epub 2016 Jul 25. No abstract available.

PMID:
27454071
29.

Detection of parasites in children with chronic diarrhea.

Maçin S, Kaya F, Çağdaş D, Hizarcioglu-Gulsen H, Saltik-Temizel IN, Tezcan İ, Demir H, Ergüven S, Akyön Y.

Pediatr Int. 2016 Jun;58(6):531-3. doi: 10.1111/ped.12959.

PMID:
27322863
30.

Statins and IL-1β, IL-10, and MPO Levels in Gingival Crevicular Fluid: Preliminary Results.

Cicek Ari V, Ilarslan YD, Erman B, Sarkarati B, Tezcan I, Karabulut E, Oz SG, Tanriover MD, Sengun D, Berker E.

Inflammation. 2016 Aug;39(4):1547-57. doi: 10.1007/s10753-016-0390-7.

PMID:
27290718
31.

ISG15 deficiency and increased viral resistance in humans but not mice.

Speer SD, Li Z, Buta S, Payelle-Brogard B, Qian L, Vigant F, Rubino E, Gardner TJ, Wedeking T, Hermann M, Duehr J, Sanal O, Tezcan I, Mansouri N, Tabarsi P, Mansouri D, Francois-Newton V, Daussy CF, Rodriguez MR, Lenschow DJ, Freiberg AN, Tortorella D, Piehler J, Lee B, García-Sastre A, Pellegrini S, Bogunovic D.

Nat Commun. 2016 May 19;7:11496. doi: 10.1038/ncomms11496.

32.

Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

Cicalese MP, Ferrua F, Castagnaro L, Pajno R, Barzaghi F, Giannelli S, Dionisio F, Brigida I, Bonopane M, Casiraghi M, Tabucchi A, Carlucci F, Grunebaum E, Adeli M, Bredius RG, Puck JM, Stepensky P, Tezcan I, Rolfe K, De Boever E, Reinhardt RR, Appleby J, Ciceri F, Roncarolo MG, Aiuti A.

Blood. 2016 Jul 7;128(1):45-54. doi: 10.1182/blood-2016-01-688226. Epub 2016 Apr 29. Erratum in: Blood. 2017 Jun 15;129(24):3271.

33.

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients.

Tan Ç, Çağdaş-Ayvaz D, Metin A, Keskin Ö, Tezcan İ, Sanal Ö.

Turk J Pediatr. 2016;58(4):356-361.

34.

An infant with ZAP-70 deficiency with disseminated mycobacterial disease.

Esenboga S, Ayvaz DC, Cetinkaya PG, van der Burg M, Tezcan İ.

J Clin Immunol. 2016 Feb;36(2):103-6. doi: 10.1007/s10875-015-0229-2. Epub 2015 Dec 28. No abstract available.

PMID:
26707786
35.

Successful outcome with second hematopoietic stem cell transplantation in a patient with IL-10R deficiency.

Kuşkonmaz B, Ayvaz D, Aydemir Y, Erman B, Tavil B, Özen H, Tezcan I, Çetinkaya DU.

Bone Marrow Transplant. 2016 Apr;51(4):615-6. doi: 10.1038/bmt.2015.310. Epub 2015 Dec 21. No abstract available.

PMID:
26691419
36.

Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS.

Tan Ç, Özgül RK, Çağdaş Ayvaz D, Tezcan İ, Sanal Ö.

Turk J Pediatr. 2015 Mar-Apr;57(2):141-5.

PMID:
26690594
37.

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

Yee CS, Massaad MJ, Bainter W, Ohsumi TK, Föger N, Chan AC, Akarsu NA, Aytekin C, Ayvaz DÇ, Tezcan I, Sanal Ö, Geha RS, Chou J.

J Allergy Clin Immunol. 2016 Mar;137(3):879-88.e2. doi: 10.1016/j.jaci.2015.08.020. Epub 2015 Oct 21.

38.

CVID Associated with Systemic Amyloidosis.

Esenboga S, Çagdas Ayvaz D, Saglam Ayhan A, Peynircioglu B, Sanal O, Tezcan I.

Case Reports Immunol. 2015;2015:879179. doi: 10.1155/2015/879179. Epub 2015 Aug 4.

39.

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation.

Halacli SO, Ayvaz DC, Sun-Tan C, Erman B, Uz E, Yilmaz DY, Ozgul K, Tezcan İ, Sanal O.

Clin Immunol. 2015 Dec;161(2):316-23. doi: 10.1016/j.clim.2015.06.010. Epub 2015 Jun 25.

PMID:
26117625
40.

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.

Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD.

J Allergy Clin Immunol. 2015 Jul;136(1):140-150.e7. doi: 10.1016/j.jaci.2015.03.005. Epub 2015 Apr 25.

41.

Diagnosis: Melanoderma after Hematopoietic Stem Cell Transplantation.

Ünal Ş, Tezcan İ, Güçer Ş, Boyraz MS, Çağdaş D, Uçkan Çetinkaya D.

Turk J Haematol. 2015 Dec;32(4):378-9. doi: 10.4274/tjh.2014.0475. Epub 2015 Apr 27. No abstract available.

42.

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Erman B, Bilic I, Hirschmugl T, Salzer E, Çagdas D, Esenboga S, Akcoren Z, Sanal O, Tezcan I, Boztug K.

Haematologica. 2015 Jun;100(6):e216-9. doi: 10.3324/haematol.2014.120980. Epub 2015 Mar 13. No abstract available.

43.

Recurrent hemoptysis and a mass in the thorax in an infant: the split notochord syndrome.

Yazici MU, Ekinci S, Turkmen OK, Yalcin EG, Ciftci AO, Gucer S, Orhan D, Tezcan I.

European J Pediatr Surg Rep. 2014 Jun;2(1):38-42. doi: 10.1055/s-0033-1354745. Epub 2013 Sep 13.

44.

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.

Engelhardt KR, Gertz ME, Keles S, Schäffer AA, Sigmund EC, Glocker C, Saghafi S, Pourpak Z, Ceja R, Sassi A, Graham LE, Massaad MJ, Mellouli F, Ben-Mustapha I, Khemiri M, Kilic SS, Etzioni A, Freeman AF, Thiel J, Schulze I, Al-Herz W, Metin A, Sanal Ö, Tezcan I, Yeganeh M, Niehues T, Dueckers G, Weinspach S, Patiroglu T, Unal E, Dasouki M, Yilmaz M, Genel F, Aytekin C, Kutukculer N, Somer A, Kilic M, Reisli I, Camcioglu Y, Gennery AR, Cant AJ, Jones A, Gaspar BH, Arkwright PD, Pietrogrande MC, Baz Z, Al-Tamemi S, Lougaris V, Lefranc G, Megarbane A, Boutros J, Galal N, Bejaoui M, Barbouche MR, Geha RS, Chatila TA, Grimbacher B.

J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.

45.

Analysis of TNF-α (-308) polymorphism and gingival crevicular fluid TNF-α levels in aggressive and chronic periodontitis: A preliminary report.

Özer Yücel Ö, Berker E, Mesci L, Eratalay K, Tepe E, Tezcan İ.

Cytokine. 2015 Apr;72(2):173-7. doi: 10.1016/j.cyto.2015.01.001. Epub 2015 Jan 31.

PMID:
25647273
46.

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.

Aydin SE, Kilic SS, Aytekin C, Kumar A, Porras O, Kainulainen L, Kostyuchenko L, Genel F, Kütükcüler N, Karaca N, Gonzalez-Granado L, Abbott J, Al-Zahrani D, Rezaei N, Baz Z, Thiel J, Ehl S, Marodi L, Orange JS, Sawalle-Belohradsky J, Keles S, Holland SM, Sanal Ö, Ayvaz DC, Tezcan I, Al-Mousa H, Alsum Z, Hawwari A, Metin A, Matthes-Martin S, Hönig M, Schulz A, Picard C, Barlogis V, Gennery A, Ifversen M, van Montfrans J, Kuijpers T, Bredius R, Dückers G, Al-Herz W, Pai SY, Geha R, Notheis G, Schwarze CP, Tavil B, Azik F, Bienemann K, Grimbacher B, Heinz V, Gaspar HB, Aydin R, Hagl B, Gathmann B, Belohradsky BH, Ochs HD, Chatila T, Renner ED, Su H, Freeman AF, Engelhardt K, Albert MH; inborn errors working party of EBMT.

J Clin Immunol. 2015 Feb;35(2):189-98. doi: 10.1007/s10875-014-0126-0. Epub 2015 Jan 28.

PMID:
25627830
47.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.

48.

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.

Yılmaz M, Çağdaş D, Grandin V, Altıntaş DU, Tezcan İ, de Saint Basile G, Sanal Ö.

Pediatr Allergy Immunol. 2014 Dec;25(8):817-9. doi: 10.1111/pai.12285. Epub 2014 Oct 31. No abstract available.

PMID:
25283056
49.

A novel mutation in leukocyte adhesion deficiency type II/CDGIIc.

Cagdas D, Yilmaz M, Kandemir N, Tezcan I, Etzioni A, Sanal Ö.

J Clin Immunol. 2014 Nov;34(8):1009-14. doi: 10.1007/s10875-014-0091-7. Epub 2014 Sep 21.

PMID:
25239688
50.

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.

Serwas NK, Cagdas D, Ban SA, Bienemann K, Salzer E, Tezcan I, Borkhardt A, Sanal O, Boztug K.

Blood. 2014 Jul 24;124(4):655-7. doi: 10.1182/blood-2014-03-564930. No abstract available.

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