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Items: 1 to 50 of 195

1.

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2.

PMID:
30391550
2.

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.

PMID:
30152873
3.

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
4.

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.

5.

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
6.

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.

Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators, Barbouche MR, McKinlay MA.

Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017.

7.

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
8.

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.

9.

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.

10.

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
11.

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.

12.

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
13.

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.

14.

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.

15.

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
16.

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.

17.

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.

18.

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
19.

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.

20.

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.

21.

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Boisson-Dupuis S, Bustamante J, El-Baghdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, Agader A, Hassani A, El Hafidi N, Mrani NA, Jouhadi Z, Ailal F, Najib J, Reisli I, Zamani A, Yosunkaya S, Gulle-Girit S, Yildiran A, Cipe FE, Torun SH, Metin A, Atikan BY, Hatipoglu N, Aydogmus C, Kilic SS, Dogu F, Karaca N, Aksu G, Kutukculer N, Keser-Emiroglu M, Somer A, Tanir G, Aytekin C, Adimi P, Mahdaviani SA, Mamishi S, Bousfiha A, Sanal O, Mansouri D, Casanova JL, Abel L.

Immunol Rev. 2015 Mar;264(1):103-20. doi: 10.1111/imr.12272. Review.

22.

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
23.

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.

24.

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
25.

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
26.

Progressive neurodegenerative syndrome in a patient with X-linked agammaglobulinemia receiving intravenous immunoglobulin therapy.

Sag AT, Saka E, Ozgur TT, Sanal O, Ayvaz DC, Elibol B, Kurne AT.

Cogn Behav Neurol. 2014 Sep;27(3):155-9. doi: 10.1097/WNN.0000000000000037.

PMID:
25237746
27.

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.

28.

Kindlin-3-independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III.

van de Vijver E, Tool AT, Sanal Ö, Çetin M, Ünal S, Aytac S, Seeger K, Pagliara D, Rutella S, van den Berg TK, Kuijpers TW.

J Allergy Clin Immunol. 2014 Apr;133(4):1215-8. doi: 10.1016/j.jaci.2013.10.020. Epub 2013 Dec 15. No abstract available.

PMID:
24342549
29.

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency.

Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C.

Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1.

30.

Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.

Bajin İY, Ayvaz DÇ, Ünal S, Özgür TT, Çetin M, Gümrük F, Tezcan İ, de Villartay JP, Sanal Ö.

Mol Immunol. 2013 Dec;56(4):354-7. doi: 10.1016/j.molimm.2013.05.004. Epub 2013 Aug 1.

PMID:
23911390
31.

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

Köker MY, Camcıoğlu Y, van Leeuwen K, Kılıç SŞ, Barlan I, Yılmaz M, Metin A, de Boer M, Avcılar H, Patıroğlu T, Yıldıran A, Yeğin O, Tezcan I, Sanal Ö, Roos D.

J Allergy Clin Immunol. 2013 Nov;132(5):1156-1163.e5. doi: 10.1016/j.jaci.2013.05.039. Epub 2013 Jul 31.

PMID:
23910690
32.

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database.

van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, Keskin Ö, Çağdaş D, Tezcan I, Lopez-Ruzafa E, Aróstegui JI, Levy J, Espinosa-Rosales FJ, Sanal Ö, Santos-Argumedo L, Casanova JL, Boisson-Dupuis S, van Dissel JT, Bustamante J.

Hum Mutat. 2013 Oct;34(10):1329-39. doi: 10.1002/humu.22380. Epub 2013 Aug 8. Review.

33.

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.

Muñoz-Ruiz M, Pérez-Flores V, Garcillán B, Guardo AC, Mazariegos MS, Takada H, Allende LM, Kilic SS, Sanal O, Roifman CM, López-Granados E, Recio MJ, Martínez-Naves E, Fernández-Malavé E, Regueiro JR.

BMC Immunol. 2013 Jan 21;14:3. doi: 10.1186/1471-2172-14-3.

34.

A novel mutation in the complement component 3 gene in a patient with selective IgA deficiency.

Santos-Valente E, Reisli I, Artaç H, Ott R, Sanal Ö, Boztug K.

J Clin Immunol. 2013 Jan;33(1):127-33. doi: 10.1007/s10875-012-9775-z. Epub 2012 Sep 21.

35.

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.

Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilıkkan B, Asal GT, Goldbach-Mansky R, Sanal O.

Clin Immunol. 2012 Oct;145(1):77-81. doi: 10.1016/j.clim.2012.08.003. Epub 2012 Aug 16.

36.

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency.

Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL.

Science. 2012 Sep 28;337(6102):1684-8. Epub 2012 Aug 2.

37.

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Cağdaş D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, de Saint Basile G, Sanal O.

Eur J Pediatr. 2012 Oct;171(10):1527-31. Epub 2012 Jun 19.

PMID:
22711375
38.

C1q deficiency: identification of a novel missense mutation and treatment with fresh frozen plasma.

Topaloglu R, Taskiran EZ, Tan C, Erman B, Ozaltin F, Sanal O.

Clin Rheumatol. 2012 Jul;31(7):1123-6. doi: 10.1007/s10067-012-1978-4. Epub 2012 May 11.

PMID:
22576477
39.

Additional diverse findings expand the clinical presentation of DOCK8 deficiency.

Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC.

J Clin Immunol. 2012 Aug;32(4):698-708. doi: 10.1007/s10875-012-9664-5. Epub 2012 Apr 4.

40.

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E, Maddalena A, Sanal Ö, Holland SM, Uzel G, Madkaikar M, de Boer M, van Leeuwen K, Köker MY, Parvaneh N, Fischer A, Law SK, Klein N, Tezcan FI, Unal E, Patiroglu T, Belohradsky BH, Schwartz K, Somech R, Kuijpers TW, Roos D.

Blood Cells Mol Dis. 2012 Jan 15;48(1):53-61. doi: 10.1016/j.bcmd.2011.10.004. Epub 2011 Nov 30. Review.

41.

Thirty years of primary immunodeficiencies in Turkey.

Sanal O, Tezcan I.

Ann N Y Acad Sci. 2011 Nov;1238:15-23. doi: 10.1111/j.1749-6632.2011.06242.x.

PMID:
22129049
42.

Cernunnos deficiency: a case report.

Turul T, Tezcan I, Sanal O.

J Investig Allergol Clin Immunol. 2011;21(4):313-6.

43.

Chronic granulomatous disease presenting with hypogammaglobulinemia.

Hanoglu D, Ozgür TT, Ayvaz D, Köker MY, Sanal O.

J Investig Allergol Clin Immunol. 2011;21(4):310-2.

44.

Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma.

Bozkurt B, Mesci L, Irkec M, Ozdag BB, Sanal O, Arslan U, Ersoy F, Tezcan I.

Clin Exp Ophthalmol. 2012 May-Jun;40(4):e156-62. doi: 10.1111/j.1442-9071.2011.02595.x. Epub 2011 Jul 26.

PMID:
21575121
45.

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.

Grant AV, Boisson-Dupuis S, Herquelot E, de Beaucoudrey L, Filipe-Santos O, Nolan DK, Feinberg J, Boland A, Al-Muhsen S, Sanal O, Camcioglu Y, Palanduz A, Kilic SS, Bustamante J, Casanova JL, Abel L.

J Med Genet. 2011 Aug;48(8):567-71. doi: 10.1136/jmg.2011.089128. Epub 2011 May 14.

46.

Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.

Çağdaş D, Özgür TT, Asal GT, Revy P, De Villartay JP, van der Burg M, Sanal Ö, Tezcan I.

Pediatr Transplant. 2012 Aug;16(5):E167-71. doi: 10.1111/j.1399-3046.2011.01491.x. Epub 2011 Apr 27.

PMID:
21535335
47.

Clinical features of chronic granulomatous disease: a series of 26 patients from a single center.

Turul-Ozgür T, Türkkani-Asal G, Tezcan I, Köker MY, Metin A, Yel L, Ersoy F, Sanal O.

Turk J Pediatr. 2010 Nov-Dec;52(6):576-81.

PMID:
21428188
48.

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.

Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA.

Cell Death Differ. 2011 Sep;18(9):1500-6. doi: 10.1038/cdd.2011.18. Epub 2011 Mar 11.

49.

H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype.

Mesci L, Ozdag H, Yel L, Ozgur TT, Tan C, Sanal O.

Int J Immunogenet. 2011 Jun;38(3):209-13. doi: 10.1111/j.1744-313X.2010.00989.x. Epub 2011 Jan 4.

PMID:
21199394
50.

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PP, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

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