Hakkımda

Prof. Dr. Şebnem Kılıç

Sevgili Ebeveynler ve Çocuklar Merhaba,


Uludağ Üniversitesi Tıp Fakültesinde Çocuk Sağlığı ve Hastalıkları ihtisası, Hacettepe Tıp Fakültesi Çocuk İmmunoloji bölümünde İmmunoloji yan dal ihtisası yaptım. 2000 yılında Uludag Üniversitesi Tıp Fakültesi Çocuk İmmunoloji bilim dalını kurdum. 2000 yılında doçent, 2006 yılında profesör oldum. 2007 yılında University College of London, Royal Free Hospital’de Yaygın değişken immün yetmezlikler, Lenfoproliferatif hastalıklar ve Konjenital nötropeni konularında immunogenetik çalışmalar yaptım. 2011 yılında çocuk romatoloji polikliniği , immunoloji bilim dalı altında hasta kabulüne başlamıştır. Halen Uludağ Üniversitesi Tıp Fakültesi Çocuk Sağlığı ve Hastalıkları AD 'nda Çocuk İmmunoloji-Romatoloji birimlerinde öğretim üyesi olarak görev yapmaktayım.


Başlıca ilgi alanlarım:

  • Otoinflamatuar hastalıklar;
  • PFAPA sendromu;
  • İmmün yetmezlik;
  • Juvenil artritler;
  • Aftöz stomatit;
  • FMF - Ailevi Akdeniz ateşi;
  • Kronik ürtiker; Dermatomyozit;
  • Atopik dermatit;
  • Periyodik ateş hastalıkları

Sağlık Eğitimi

Alerji nedir?

Alerji nedir? Nasıl tanı konulur? Çeşitleri nelerdir?

Çevremizde yaygın olarak bulunan alerjenlere bazı bireyler diğerlerinden daha fazla duyarlı olup (atopik bünye); alerjenle karşılaşma durumlarında abartılı bir reaksiyon verirler. Bu duruma alerji denilmektedir. Toplumda yaşayan bireylerin yaklaşık %30’u alerjik tabiattadır.

Çocukluk çağı romatizmal hastalıkları

Çocukluk çağı romatizmal hastalıkları

Çocukluk yaş döneminde eklemler, kas, cilt ve tırnakları tutabilen hastalıklar grubudur. Eklem ağrısı (artralji) ya da artrit ( eklemin kronik iltihabı) bunların en çok bilinenleridir.

Aşılama ve Bağışıklama

Aşılama ve Bağışıklama

Enfeksiyon yapamayacak oranda zayıflatılmış canlı bakteri/virüs veya ölü bakteri/virüs'ün sıvı içindeki formuna 'aşı' denir. Konağa ağızdan veya iğne ile kas içine verilir. Aşı uygulandıktan birkaç hafta sonraccbakteri/virüse karsı antikor denilen koruyucu protein gelişir.

İmmün sistem hücrelerini tanıyalım! B hücresi, T hücresi

İmmün sistem hücrelerini tanıyalım! B hücresi, T hücresi

İmmün yetmezlikler bağışıklık sistemindeki doğuştan ya da sonradan ortaya çıkan eksiklik tablolarıdır. Hastalarda tekrarlayan enfeksiyonlar, otoimmün hastalıklara ve kansere yatkınlık söz konusu olabilmektedir.

Otoinflamatuar Hastalıklar

Otoinflamatuar Hastalıklar

Otoinflamatuar sendromlar çoğunlukla tekrarlayan ateş, akut faz reaktanlarında yükseklik gibi sistemik belirtilerin yanında; döküntü, serözit, artrit, lenfadenopati gibi patolojilerin eşlik ettiği hastalıklardır.

Notropeni

Nötropeni

Dolaşımdaki nötrofil sayısının 500/mm3 den az olmasıdır. Kemik iliğinde nötrofillerin azalmış üretimi sonucunda veya olgun nötrofillerin kana salınımının azalmasıyla sonuçlanan bir bozukluktur. Konjenital enfeksiyonlar veya parvovirüs enfeksiyonları, ilaçlar, toksinler, kanser, otoimmün bozukluklar veya diğer kazanılmış bozukluklardan dolayı da nötropeni görülebilmektedir.

Tekrarlayan Aftlar

Tekrarlayan Aftlar

Tekrarlayan aftöz stomatit (TAS) kendiliğinden iyileşen bir veya daha fazla ağrılı ülserle karakterizedir. Görülme sıklığı % 2-66 olup, en çok karşılaşılan ağız mukozası hastalığıdır. TAS’in sebebi bilinmemektedir fakat kalıtsal özellikleri vardır ve ağız mukozasına karşı bir bağışık yanıt ile ilişkilidir.

Çocukluk Çağında Kas ve Eklem Ağrıları

Çocukluk Çağında Kas ve Eklem Ağrıları

Kas iskelet ağrısı sıklığı çocukluk çağında %25-50 oranında görülmektedir. Çocuklardaki yineleyen ağrı yakınmalarının içinde üçüncü sırayı baş ağrısı ve karın ağrısından sonra bacak ağrıları almaktadır. Tüm yaşlarda en sık diz ağrısı görülürken, okul öncesi dönemde kalça ağrısı , buluğ çağı döneminde ise topuk ve bel ağrısı ön sıralara geçmektedir.

Çocukluk Çağında Kas ve Eklem Ağrıları

Bebek ve Çocuklarda Bağışıklık Sistemi

Bağışıklık sistemin gelişimi yaşla birlikte tamamlandığı için bebek ve çocuklarda immün sistemin bazı farklılıkları vardır. Bebeklerde aşıya ya da mikroorganizmalara karşı antikor yanıtları istenilen düzeyde değildir.

Medyada

Sık Hastalanan Çocuk

Reçete, Line TV, Bursa

3 Kasım 2017

Çoçukta Romatizmal Hastalıklar

Reçete, Line TV, Bursa

12 Aralık 2016

Çoçuklarda Görülen Alerjiler

Güne Başlarken, Bursa TV, Bursa

7 Nisan 2016

Sık Hastalanan Çocuk

Sağlık Rehberi, Line TV, Bursa

18 Kasım 2013

Çoçukta Romatizmal Hastalıklar

Sağlık Rehberi, Line TV, Bursa

2 Ağustos 2013

Çocuklarda Sık Tekrarlayan Enfeksiyonlar

Sağlık Rehberi, Line TV, Bursa

1 Şubat 2013

İletişim

Prof. Dr. Şebnem Kılıç Muayenehanesi


0543 6780446
Asya İş Merkezi, No:2 Kat:4 Daire:402,
Sanayi Cad., Kantar Sok,
Yeni Karaman Mah.,
Osmangazi/Bursa
(İhsaniye Metro istasyonunun karşısında)

0543 6780446

Yayınlarım

2018


  • Cekic S, Yalcinbayir O, Kilic SS. Ocular Involvement in Muckle-Wells Syndrome. Ocul Immunol Inflamm. 2018 Dec 17:1-9
  • Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B. ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol. 2018 ;3(24).
  • Fierabracci A, Pellegrino M, Frasca F, Kilic SS, Betterle C. APECED in Turkey: A case report and insights on genetic and phenotypic variability. Clin Immunol. 2018;194:60-66.
  • Turan E, Kilic SS. Retrospective view of primary Raynaud's phenomenon in childhood. Reumatol Clin. 2018 pii: S1699-258X(17)30317-0. doi: 10.1016/j.reuma.2017.12.012.

2017


  • Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflamm Bowel Dis. 2017 ;23(12):2109-2120.
  • Cekic S, Saglam H, Gorukmez O, Yakut T, Tarim O, Kilic SS. Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation. J Clin Immunol. 2017 Jul 5. doi: 10.1007/s10875-017-0412-8.
  • Leiding JW, Okada S, Hagin D, Abinun M, Shcherbina A, Balashov DN, Kim VHD, Ovadia A, Guthery SL, Pulsipher M, Lilic D, Devlin LA, Christie S, Depner M, Fuchs S, van Royen-Kerkhof A, Lindemans C, Petrovic A, Sullivan KE, Bunin N, Kilic SS, Arpaci F, Calle-Martin O, Martinez-Martinez L, Aldave JC, Kobayashi M, Ohkawa T, Imai K, Iguchi A, Roifman CM, Gennery AR, Slatter M, Ochs HD, Morio T, Torgerson TR; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations. J Allergy Clin Immunol. 2017 Jun 7. pii: S0091-6749(17)30916-8
  • Gunes M, Cekic S, Kilic SS. Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants? Pediatr Int. 2017 ;59(6):655-660. doi: 10.1111/ped.13265.

2016


  • Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium, Alcais A, Boisson B, Casanova JL, Abel L. Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage. Proc Natl Acad Sci U S A. 2016;113(24):6713-8. doi: 10.1073/pnas.1606460113.
  • Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG; Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG. Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet. 2016;48(9):1071-6.
  • Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica. 2016;101(10):1180-1189.
  • Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E. Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint. J Clin Invest. 2016 ;126(11):4289-4302. doi: 10.1172/JCI84645.
  • Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. J Allergy Clin Immunol. 2016. pii: S0091-6749(16)30097-5.
  • Erdol S, Cekic S, Kılıc SC, Saglam H, Kılıc SS. Massive ascites in a canakinumab resistant case with MVA leading to bone marrow transplantation. Rheumatol Int. 2016;36(7):
  • Cekic S, Kilic SS. Iloprost treatment in pediatric patients with complicated Raynaud's phenomenon. Lupus. 2016; 25(5):558-60.

2015


  • Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E. Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance. Immunity. 2015 Nov 17;43(5):884-95.
  • Kilic SS, Cekic S. Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation. J Pediatr Hematol Oncol. 2015; 38(2):e75-7.
  • Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. J Allergy Clin Immunol. 2015 Jul 7. pii: S0091-6749(15)00787-3. doi: 10.1016/j.jaci.2015.05.036
  • Wolska-Kuśnierz B, Gregorek H, Chrzanowska K, Piątosa B, Pietrucha B, Heropolitańska-Pliszka E, Pac M, Klaudel-Dreszler M, Kostyuchenko L, Pasic S, Marodi L, Belohradsky BH, Čižnár P, Shcherbina A, Kilic SS, Baumann U, Seidel MG, Gennery AR, Syczewska M, Mikołuć B, Kałwak K, Styczyński J, Pieczonka A, Drabko K, Wakulińska A, Gathmann B, Albert MH, Skarżyńska U, Bernatowska E; Inborn Errors Working Party of the Society for European Blood and Marrow Transplantation and the European Society for Immune Deficiencies. Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis. J Clin Immunol. 2015 Aug 14.
  • Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med. 2015 Aug 24. pii: jem.20140280.
  • Erdemir G, Ozkan TB, Ozgur T, Budak F, Kilic SS, Onay H. Mannose-binding lectin gene polymorphism and chronic hepatitis B infection in children. Saudi J Gastroenterol. 2015 ;21(2):84-9.
  • 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. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2015 Feb 25
  • 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. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103-20.
  • 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; On behalf of the inborn errors working party of EBMT. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients.J Clin Immunol. 2015 ;35(2):189-98.

2014


  • Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A, Szaflarska A, Kiliç Ş, Franco JL, Gómez Raccio AC, Roxo P Jr, Esteves I, Galal N, Grumach AS, Al-Tamemi S, Yildiran A, Orellana JC, Yamada M, Morio T, Liberatore D, Ohtsuka Y, Lau YL, Nishikomori R, Torres-Lozano C, Mazzucchelli JT, Vilela MM, Tavares FS, Cunha L, Pinto JA, Espinosa-Padilla SE, Hernandez-Nieto L, Elfeky RA, Ariga T, Toshio H, Dogu F, Cipe F, Formankova R, Nuñez-Nuñez ME, Bezrodnik L, Marques JG, Pereira MI, Listello V, Slatter MA, Nademi Z, Kowalczyk D, Fleisher TA, Davies G, Neven B, Rosenzweig SD. BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies. J Allergy Clin Immunol. 2014;133(4):1134-41.
  • Schatorjé EJ, Gathmann B, van Hout RW, de Vries E; PedPAD consortium. The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database.Clin Exp Immunol. 2014;176(3):387-93
  • Kilic SS, Puel A, Casanova JL. Orf Infection in a Patient with Stat1 Gain-of-Function. J Clin Immunol. 2014 Nov 4.
  • Hennig C, Ilginus C, Boztug K, Skokowa J, Marodi L, Szaflarska A, Sass M, Pignata C, Kilic SS, Caragol I, Baumann U, Klein C, Welte K, Hansen G. High-content cytometry and transcriptomic biomarker profiling of human B-cell activation. J Allergy Clin Immunol. 2014;133(1):172-80.

2013


  • 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. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. J Allergy Clin Immunol. 2013;132(5):1156-1163.
  • 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. Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression. BMC Immunol. 2013 Jan 21;14:3
  • Kilic SS, Ozel M, Hafizoglu D, Karaca NE, Aksu G, Kutukculer N. The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study. J Clin Immunol. 2013;33(1):74-83

2012


  • Kilic SS, van Wengen A, de Paus RA, Celebi S, Meziane B, Hafizoglu D, van Dissel JT, van de Vosse E. Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency. J Infect. 2012;65(6):568-72.
  • Özdemir Ö, Okan MS, Kilic SS. Chronic inflammatory demyelinating polyneuropathy in common variable immunodeficiency. Pediatr Neurol. 2012;46(4):260-2.
  • Ma CS, Avery DT, Chan A, Batten M, Bustamante J, Boisson-Dupuis S, Arkwright PD, Kreins AY, Averbuch D, Engelhard D, Magdorf K, Kilic SS, Minegishi Y, Nonoyama S, French MA, Choo S, Smart JM, Peake J, Wong M, Gray P, Cook MC, Fulcher DA, Casanova JL, Deenick EK, Tangye SG. Functional STAT3 deficiency compromises the generation of human T follicular helper cells.Blood. 2012;119(17):3997-4008.
  • Kilic SS, Hacimustafaoglu M, Boisson-Dupuis S, Kreins AY, Grant AV, Abel L, Casanova JL. A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome. J Pediatr. 2012 Jun;160(6):1055-7.

2011


  • Karali Y, Saglam H, Karali Z, Kilic SS. The use of complementary and alternative medicine in patients with common variable immunodeficiency.J Investig Allergol Clin Immunol. 2011;21(6):480-3.
  • Karali Z, Basaranoglu ST, Karali Y, Oral B, Kilic SS. Autoimmunity and hepatitis A vaccine in children. J Investig Allergol Clin Immunol. 2011;21(5):389-93
  • Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, María Cortés Grimaldo R, Blancas-Galicia L, Madrigal Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011 ;208(8):1635-48.
  • Ozkan H, Köksal N, Cetinkaya M, Kιlιç S, Celebi S, Oral B, Budak F. Serum mannose-binding lectin (MBL) gene polymorphism and low MBL levels are associated with neonatal sepsis and pneumonia. J Perinatol. 2011 Jun 16. doi: 10.1038/jp.2011.79.
  • Meyers G, Ng YS, Bannock JM, Lavoie A, Walter JE, Notarangelo LD, Kilic SS, Aksu G, Debré M, Rieux-Laucat F, Conley ME, Cunningham-Rundles C, Durandy A, Meffre E. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Proc Natl Acad Sci U S A. 2011 Jun 23.
  • 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. Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. J Med Genet. 2011
  • Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol. 2011;139(1):6-11.
  • de Paus RA, Kilic SS, van Dissel JT, van de Vosse E. Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness. Genes Immun. 2011;12(2):136-44.

2010


  • Kilic SS, Kavurt S, Balaban Adim S. Transfusion-associated graft-versus-host disease in severe combined immunodeficiency. J Investig Allergol Clin Immunol. 2010;20(2):153-6.
  • Tanir S, Karkucak M, Yakut T, Kilic SS . Toll-like Receptor-9 Gene Polymorphism in Common Variable Immunodefi ciency. J Investig Allergol Clin Immunol. 2010;20(3):267-8.
  • Kilic SS, Mustafayeva S, Ipek K, Adim SB. Leukocytoclastic Vasculitis in Patients with Severe Congenital Neutropenia. J Trop Pediatr. 2010;56(5):359-62.
  • Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Bręborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE Syndrome. The Journal of Allergy and Clinical Immunology 2010;125(2):424-432.
  • Elhasid R, Kilic SS, Ben-Arush M, Etzioni A, Rowe JM. Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome. Bone Marrow Transplant. 2010 ;45(2):413-4.

2009


  • Giambra V, Cianci R, Lolli S, Mattioli C, Tampella G, Cattalini M, Kilic SS, Pandolfi F, Plebani A, Frezza D. Allele *1 of HS1.2 Enhancer Associates with Selective IgA Deficiency and IgM Concentration. J Immunol. 2009;183(12):8280-5.
  • Hanada R, Leibbrandt A, Hanada T, Kitaoka S, Furuyashiki T, Fujihara H, Trichereau J, Paolino M, Qadri F, Plehm R, Klaere S, Komnenovic V, Mimata H, Yoshimatsu H, Takahashi N, von Haeseler A, Bader M, Kilic SS, Ueta Y, Pifl C, Narumiya S, Penninger JM. Central control of fever and female body temperature by RANKL/RANK. Nature. 2009;462(7272):505-9.
  • Rotthier A, Baets J, Vriendt ED, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain. 2009; 132(Pt 10):2699-711
  • Manevich-Mendelson E, Feigelson SW, Pasvolsky R, Aker M, Grabovsky V, Shulman Z, Kilic SS, Rosenthal-Allieri MA, Ben-Dor S, Mory A, Bernard A, Moser M, Etzioni A, Alon R. Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditions. Blood 2009; 114(11):2344-53
  • Conley ME, Dobbs AK, Farmer DM, Kilic S, Paris K, Grigoriadou S, Coustan-Smith E, Howard V, Campana D. Primary B cell immunodeficiencies: comparisons and contrasts. Annu Rev Immunol. 2009;27:199-227.
  • Kilic SS, Ozturk R, Sarisozen B, Rotthier A, Baets J, Timmerman V. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis. Neurogenetics. 2009;10(2):161-5.
  • Kilic SS, Etzioni A. The Clinical Spectrum of Leukocyte Adhesion Deficiency (LAD) III due to Defective CalDAG-GEF1. J Clin Immunol. 2009;29(1):117-22.

2008


  • Mory A, Feigelson SW, Yarali N, Kilic SS, Bayhan GI, Gershoni-Baruch R, Etzioni A, Alon R. Kindlin-3: a new gene involved in the pathogenesis of LAD-III. Blood. 2008;112(6):2591.
  • Turul Özgür T, Türkkanı Asal G, Cetinkaya D, Orhan D, Kılıç SS, Usta Y, Ozen H, Tezcan I. Hematopoietic stem cell transplantation in a CD3gamma-deficient infant with inflammatory bowel disease. Pediatr Transplant. 2008 Dec;12(8):910-3.
  • Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations. Am J Hum Genet. 2008 Jul;83(1):64-76.
  • Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco JL, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn TR, Woellner C, Grimbacher B. Toll-Like Receptor Stimulation Induces Higher TNF-alpha Secretion in Peripheral Blood Mononuclear Cells from Patients with Hyper IgE Syndrome. Int Arch Allergy Immunol. 2008;146(3):190-194 .

2007


  • Pasvolsky R, Feigelson SW, Kilic SS, Simon AJ, Tal-Lapidot G, Grabovsky V, Crittenden JR, Amariglio N, Safran M, Graybiel AM, Rechavi G, Ben-Dor S, Etzioni A, Alon R. A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. J Exp Med. 2007 Jul 9;204(7):1571-82.
  • Kilic SS, Giraud M, Schmitt S, Bezieau S, Kury S. A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica. Br J Dermatol. 2007; 157(2):386-7.
  • Recio MJ, Moreno-Pelayo MA, Kilic SS, Guardo AC, Sanal O, Allende LM, Perez-Flores V, Mencia A, Modamio-Hoybjor S, Seoane E, Regueiro JR. Differential biological role of CD3 chains revealed by human immunodeficiencies. J Immunol. 2007 15;178(4):2556-64.
  • Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lucke T, Alpay H, Andre JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Frund S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat. 2007 Mar;28(3):273-83.

2006


  • Kilic SS. A small girl with a bird-like face. Acta Paediatr. 2006 Nov;95(11):1505-8.
  • Giambra V, Martinez-Labarga C, Giufre' M, Modiano D, Simpore' J, Gisladottir BK, Francavilla R, Zhelezova G, Kilic SS, Crawford M, Biondi G, Rickards O, Frezza D. Immunoglobulin Enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker. Ann Hum Genet. 2006 ;70(Pt 6):946-50.
  • Kilic SS, Kilicbay F. Interferon- alpha treatment of molluscum contagiosum in a patient with hyper Ig E syndrome. Pediatrics 2006; 117(6): 1253-1255.
  • Yakut T, Kılıc SS , Cil E, Yapici E, Egeli Ü. Use of FISH technique in the diagnosis of DiGeorge syndrome/chromosome 22q11.2 deletion syndrome. Pediatr Surg Int 2006; 22(4):380-3.

2005


  • Bayrakci B, Ersoy F, Sanal O, Kilic S, Metin A, Tezcan I. The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID). Turk J Pediatr. 2005 ;47(3):239-46.
  • Kilic SS, Donmez O, Sloan EA, Elizondo LI, Huang C, Andre JL, Bogdanovic R, Cockfield S, Cordeiro I, Deschenes G, Frund S, Kaitila I, Lama G, Lamfers P, Lucke T, Milford DV, Najera L, Rodrigo F, Saraiva JM, Schmidt B, Smith GC, Stajic N, Stein A, Taha D, Wand D, Armstrong D, Boerkoel CF. Association of migraine-like headaches with Schimke immunoosseous dysplasia. Am J Med Genet 2005; 135(2):206-10.
  • Kılıc SS, Cil E, Meral A, Villa A. Cardiac Thrombus in  Omenn Syndrome. J Pediatr Cardiol 2005; 26(5):694-7.
  • Kılıc SS. Anti-tumour necrosis factor alpha treatment of juvenil idiopathic arthritis in a patient with common variable immunodeficiency. J Tropic Pediatr 2005; 51(3):194-5.
  • Kılıc SS, Kezer EY, Ozarda YI, Yakut T, Aydin S, Ulus IH. Vitamin A deficiency in patients with common variable immunodeficiency. J Clin Immunol 2005; 25(3):275-80.

2003


  • Kılıç S.S, Kose H, Ozturk H. Pulmonary involvement in a patient with dyskeratosis congenita. Pediatrics International (2003) 45, 740-742.
  • Kılıc SS, Oral HB, Budak F, Yavascaoglu B, Goral G. Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency. Indian J Pediatr 2003; 70: 389-392.
  • Kılıc SS, Gürpınar A, Yakut T, Egeli Ü, Dogruyol H. Esophageal atresia and tracheo-esophageal fistula in a patient with DiGeorge Syndrome. J Pediatr Surg 2003 ;38(8):E21-3.
  • Kılıç S.S. Omenn’s Syndrome. International Pediatrics 2003; 18(1):41-42.

2002


  • Kılıç S.S. Leukocyte Adhesion Deficiency in a Case Presenting as Septic Arthritis. International Pediatrics 2002;17(2):96-97.
  • Kılıç S.S, Sanal Ö, Tezcan İ, Ersoy F. Osteochondritis dissecans in a patient with hyperimmunoglobulin E syndrome. The Turkish Journal of Pediatrics. 2002 ;44(4):357-9
  • Kılıç S.S, Bostan Ö, Çil E. Takayasu arteritis in a case with low CD4 T+ lymphopenia without evidence of HIV infection. Annals of the Rheumatic Diseases 2002; 61(1): 92-93

2001


  • Düzova A, Topaloğlu R, Sanal O, Kilic S, Mazza C, Besbas N, Bakkaloglu. Henoch-Schonlein purpura in Wiskott-Aldrich syndrome. Pediatr Nephrol. 2001 Jun;16(6):500-2.
  • Kılıç S.S.,Tezcan İ, Sanal Ö, Ersoy F. Common variable immunodeficiency in a patient with neurofibromatosis. Pediatrics International 2001;43-6: 691-693.
  • Kılıç S.S, Bostan Ö, Çil E. Juvenile rheumatoid arthritis in a patient with common variable immunodeficiency. International Pediatrics 2001; 16-1: 94-95.
  • Kılıç S.S, Talim B, Tezcan İ, Sanal Ö, Çağlar M, Ersoy F. Herpes Simplex virus hepatitis in a patient with severe combined immunodeficiency. International Pediatrics 2001; 16(3): 155-157.
  • Kılıç S.S, Hacımustafaoğlu M, Çelebi S, Karadeniz A, Ildırım İ. Low dose cyclosporin A treatment in generalized pustular psoriasis. Pediatric Dermatology 2001;18(3):246-248.

2000


  • Sanal Ö, Özçelik U, Kuyucu N, Tezcan İ, Kütükçüler N, Kiper N, Metin A, Kılıc SS, Anadol D, Göçmen A, Berkel Aİ, Yalçın I, Ersoy F, de Boer A, Verhagen C, Ottenhoff THM. Heterogeneity in phenotypic features in ptients with IL121 deficiency: Clinical and laboratory features and response to therapy in five patients. International Proceedings Division, 2000.
  • Kılıç S.S, Tezcan İ, Sanal Ö, Metin A, Ersoy F. Transient hypogammaglobulinemia of infancy. Pediatrics International 2000; 42: 647-650.

1999


  • Gerçeker FÖ, Tezcan İ, Berkel Aİ, Özcan ÖA, Özkara OS, Ersoy F, Sanal Ö, Kılıç S, Metin A, Özgüç M. The frequency of Mannose Binding Protein gene mutations in Turkish patients with different infections and healthy individuals. European Journal of Human Genetics 1999; 7 (supp 1): p586.
  • Tezcan İ, Ersoy F, Sanal Ö, Uçkan D, Kılıç S, Tuncer M, Berkel Aİ. Allogeneic bone marrow transplantation for children with severe combined immunodeficiency. Bone Marrow Transplantation 1999; 23 supp 1: S109.
  • Kılıç S.S, Ersoy F, Sanal Ö, Tezcan İ. Dermatomyositis-like syndrome in a patient with X-linked Agammaglobulinemia. Turkish Journal of Immunology. 1999; 4: 25-27.
  • Çelebi S, Kılıç S.S ve Okan M. Psoriasis in a patient with neurofibromatosis. The Turkish Journal of Pediatrics 1999; 41(4): 545-549.
  • Kılıç S.S, Ersoy F, Sanal Ö, Türkbay D ve Tezcan İ. Alopecia Universalis in a patient with common variable immunodeficiency. Pediatric Dermatology 1999; 16(4): 305-307.
  • Kılıç S, Tarım Ö, Eralp Ö. Serum prolactin in neonatal seizures. Pediatrics International 1999:41 (1):61-64.
  • Tezcan İ, Sanal Ö, Ersoy F, Uçkan D, Kılıç S, Metin A, Çetin M, Akın R, Öner C ve Tuncer A.M. Successful bone marrow transplantation in a case with Griscelli disease who presented with neurological manifestations. Bone Marrow Transplantation 1999; 24: 931-933.

1998


  • Kılıç S, Köksal N, Hacımustafaoğlu M. Varicella arthritis. The New Journal of Medicine 1998; 15(1): 51-52.

1997


  • Hacımustafaoğlu M, Ener B, Tarım Ö, Kılıç S, Tanrıtanır A, Ildırım İ. Systemic candidiasis with acute Epstein-Barr virus infection. Acta Paediatrica 1997; 86:1267-1270.