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Items: 1 to 20 of 137

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Haskologlu S, Kostel Bal S, Islamoglu C, Aytekin C, Guner S, Sevinc S, Keles S, Kendirli T, Ceylaner S, Dogu F, Ikinciogullari A.

Pediatr Allergy Immunol. 2020 Feb 28. doi: 10.1111/pai.13236. [Epub ahead of print]

PMID:
32108967
3.

The Effect of the Körner's Septum on Graft and Hearing Success after Type 1 Tympanoplasty.

Karakus MF, Karakurt SE, Ozcan KM, Ikinciogullari A, Colak M, Dere HH.

J Coll Physicians Surg Pak. 2020 Feb;30(2):154-157. doi: 10.29271/jcpsp.2020.02.154.

PMID:
32036822
4.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Rivière JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Pérez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarström L, Dogu F, Haskologlu S, İkincioğulları AI, Köstel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppänen MRJ, Lankester A, Gennery AR, Seidel MG; Inborn Errors, Clinical, and Registry Working Parties of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies.

J Allergy Clin Immunol. 2019 Dec 27. pii: S0091-6749(19)32603-X. doi: 10.1016/j.jaci.2019.12.896. [Epub ahead of print]

5.

Evaluation of olfactory function in patients with obstructive sleep apnea syndrome.

Karakurt SE, Karakuş MF, Çolak M, Akbal Ş, Çetin MA, İkincioğulları A, Dere HH.

Sleep Breath. 2019 Dec 16. doi: 10.1007/s11325-019-01996-z. [Epub ahead of print]

PMID:
31845085
6.

Evaluation of Liver Functions Based on Serum Aminotransferase Enzyme Levels in Patients with Obstructive Sleep Apnea Syndrome.

Atan D, Köseoğlu S, Özcan KM, İkincioğulları A, Topak AB, Özcan İ, Dere H.

Indian J Otolaryngol Head Neck Surg. 2019 Nov;71(Suppl 3):1679-1682. doi: 10.1007/s12070-015-0914-8. Epub 2015 Sep 22.

PMID:
31763223
7.

The Predictive Value of Neutrophil-to-Lymphocyte Ratio for Hodgkin's Lymphoma Diagnosis in Patients with Asymptomatic Cervical Lymphadenopathy.

Çolak M, Eravcı FC, Karakurt SE, Karakuş MF, İkincioğulları A, Özcan KM.

Indian J Otolaryngol Head Neck Surg. 2019 Oct;71(Suppl 1):986-991. doi: 10.1007/s12070-019-01676-0. Epub 2019 Jun 5.

PMID:
31742107
8.

Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency.

Kuloglu Z, Balcı D, Haskoloğlu ZŞ, Kendirli T, Bingöl-Koloğlu M, Tuna-Kırsaçlıoğlu C, Bal S, Selbuz S, Kırımker O, Savaş B, Altuntaş C, Güner ŞN, Can ÖS, Karayalçın K, Doğu F, Kansu Tanca A, İkincioğulları A.

Pediatr Transplant. 2019 Nov;23(7):e13545. doi: 10.1111/petr.13545. Epub 2019 Jul 11.

PMID:
31297914
9.

Is Adenotonsillar Size a Significant Factor on Voice in Children Undergoing Adenotonsillectomy?

Karakurt SE, Cetin MA, Yamur AR, Ikinciogullari A, Ensari S, Dere HH.

J Coll Physicians Surg Pak. 2019 Jun;29(6):524-527. doi: 10.29271/jcpsp.2019.06.524.

PMID:
31133149
10.

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.

El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E, Ikinciogullari A, Kamal E, Kanegane H, Kechout N, Lau YL, Morio T, Moschese V, Neves JF, Ouederni M, Paganelli R, Paris K, Pignata C, Plebani A, Qamar FN, Qureshi S, Radhakrishnan N, Rezaei N, Rosario N, Routes J, Sanchez B, Sediva A, Seppanen MR, Serrano EG, Shcherbina A, Singh S, Siniah S, Spadaro G, Tang M, Vinet AM, Volokha A, Sullivan KE.

World Allergy Organ J. 2019 Mar 22;12(3):100018. doi: 10.1016/j.waojou.2019.100018. eCollection 2019.

11.

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
12.

The Voice Performance After Septoplasty With Surgical Efficacy Demonstrated Through Acoustic Rhinometry and Rhinomanometry.

Apaydın E, İkincioğulları A, Çolak M, Atan D, Ensari S, Dere HH.

J Voice. 2019 Feb 6. pii: S0892-1997(18)30531-9. doi: 10.1016/j.jvoice.2019.01.008. [Epub ahead of print]

PMID:
30738782
13.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP.

J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

14.

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL.

Sci Immunol. 2018 Dec 21;3(30). pii: eaau6759. doi: 10.1126/sciimmunol.aau6759.

15.

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.

16.

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL.

Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z. Epub 2018 Aug 20.

17.

Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death

Olcay L, Ünal Ş, Onay H, Erdemli E, Öztürk A, Billur D, Metin A, Okur H, Yıldırmak Y, Büyükaşık Y, İkincioğulları A, Falay M, Özet G, Yetgin S.

Turk J Haematol. 2018 Nov 13;35(4):229-259. doi: 10.4274/tjh.2017.0160. Epub 2018 Jul 24.

18.

Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies.

Haskoloğlu Ş, Köstel Bal S, İslamoğlu C, Altun D, Kendirli T, Doğu EF, İkincioğulları A.

Pediatr Transplant. 2018 Nov;22(7):e13266. doi: 10.1111/petr.13266. Epub 2018 Jul 11.

PMID:
29992714
19.

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M.

Exp Clin Endocrinol Diabetes. 2018 Nov;126(10):612-618. doi: 10.1055/s-0043-120571. Epub 2017 Nov 28.

PMID:
29183106
20.

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, Kuloglu Z, Yavuz G, Dalgic B, Siklar Z, Kansu A, Ensari A, Boztug K, Dogu F, Ikinciogullari A.

J Clin Immunol. 2017 Nov;37(8):790-800. doi: 10.1007/s10875-017-0446-y. Epub 2017 Sep 27.

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