Pediatrik İmmünoloji Laboratuvarları

Hakkında

Türkiye`deki ilk immünoloji bilim dalı Hacettepe Üniversitesi Tıp Fakültesi Çocuk Kliniği`nde 1971 yılında Prof. Dr. A. İzzet Berkel tarafından kurulmuştur. İzzet Berkel tarafından önce yurtdışında daha sonra Hacettepe Üniversitesi`nde timik aplazi, ağır kombine immün yetmezlik hastalarında transplantasyon, hipogamaglobulinemi ve gecikmiş tip hipersensitivite reaksiyonu konularında yayınlar, ardından Dr. Özden Kıran, Fügen Ersoy bir doğumsal immün yetmezlik olan ataksi telanjiyektazi hastalığı ve immünglobulin düzeyleri ile ilgili çalışmalar yapmışlar, Prof. Dr Fügen Ersoy ve Prof. Dr. Özden Sanal’ın Pediatrik İmmünoloji Ünitesinde görev almalarıyla ünitede temel ve klinik immünoloji alanında eğitim ve araştırma etkinlikleri yanında primer immün yetmezlik hastalıklarının tanısına yönelik serolojik yöntemler kullanılmış, immün fiksasyon, elektroforez, spektrofotometre yardımı ile birçok test kullanıma girmiştir. Transplantasyon öncesi çapraz-karşılaştırma (cross-match) çalışmaları, kompleman, nefelometrik yöntemle immünoglobulin ve immünglobulin subgruplarının ölçümü, polisakkarit antikor yanıtlarının suşa özgü olarak belirlenmesi, kompleman hemolitik aktivitesinin koyun eritrositleri yardımı ile ölçümü, kompleman bileşenlerinin ELISA testi yardımı ile ölçülmesi, radyoaktif timidin ile lenfosit proliferasyonunun farklı mitojenik maddelerle uyarım sonucunda değerlendirilmesi ve akım sitometrik yüzey molekül ifadelerinin saptanması gibi laboratuvar çalışmaları yıllar içinde imm sistem hastalıklarının tanısında rutin kullanıma girmiştir.

Hacettepe Üniversitesi Çocuk Sağlığı ve Hastalıkları Enstitüsü bünyesinde 1982 yılından itibaren Dr. İzzet Berkel, Dr. Ersoy ve Dr. Sanal öncülüğünde Türkiye`de ilk defa yüksek lisans ve doktora çalışmalarına başlanmıştır.

Hacettepe Üniversitesi`nde Çocuk İmmünoloji Bilim dalına 1989 yılında Prof. Dr. İlhan Tezcan katılmış, ve kendisi yurtdışında bu konuda eğitim gördükten sonra 1994 yılında ilk kez ağır kombine immün yetmezlikli bir hastaya kemik iliği transplantasyonu yapmış, ardından osteopetrozis, Griscelli Sendromu gibi birçok immün yetmezlik tipinde kök hücre nakli tedavi uygulamaları devam etmiştir. Dr. Berkel, Dr. Ersoy, Dr. Sanal ve Dr. Tezcan primer immün yetmezlik hastalıklarının fenotipik bulgularının ulusal ve uluslararası bilim dünyası ile beraber tanımlanmasında önemli görev almışlar, immünoloji alanında yapılan laboratuvar çalışmaları ile immün system hastalıklarının tanısında yeni yöntemler uygulamaya girmiştir. Sağlıklı Türk çocuklarında serum immünglobulin (Ig) düzeylerinin belirlenmesi ve ardından IgG alt gruplarının değişik yaş gruplarındaki düzeylerini saptayarak Türk toplumu için referans değerlerini belirleyen çalışmalar yapılmıştır. HLA doku grubu uygun vericisi olmayan hastalarda T lenfosit deplesyon teknikleri uygulayarak haploidentik kök hücre transplantasyonu yapılmıştır.

İmmünoloji bilimi diğer birçok bilim dalı gibi genetik çalışmaların hız kazanması ile özellikle 2000’li yıllardan itibaren hızlı bir gelişim göstermiştir. Allerji, aşılama, doku ve organ nakilleri ile ilgili immün cevapların anlaşılmaya başlanmasıyla immünoloji biliminin gelişimi devam etmiştir. Gen dizileme çalışmalarının yeni kalıtsal bağışıklık sistem hastalıklarının tanısına katkısı olmuş, bu şekilde immün sistemde görev alan farklı moleküllerin tanımlanması ve bu moleküllerin immün sistemdeki rollerinin belirlenmesi mümkün olmuştur. Yapılan uluslararası çalışmalar ile Dr. Berkel (59, 60), Dr. Ersoy (60), Dr. Sanal (61-65), Dr. Tezcan (66-68), Dr. Çağdaş Ayvaz (92, 93) birçok yeni immün yetmezlik tipinin genetik olarak tanımlanmasına katkıda bulunmuşlardır.

Hacettepe Üniversitesi Tıp Fakültesi Pediatrik İmmünoloji Bilim Dalı ve Ankara Üniversitesi Tıp Fakültesi Pediatrik İmmünoloji-Allerji Bilim Dalı öğretim üyelerinin Ankara’da yeni bir Jeffrey Modell merkezi kurulmasına yönelik hazırladıkları proje 2010 yılında vakıf tarafından kabul edilmiş, merkezin açılışı 20 Nisan 2012’de düzenlenen uluslararası sempozyumla gerçekleştirilmiştir. Merkezin temel hedefleri arasında, immün yetmezliklerle ilgili farkındalığı toplumda ve hekimler arasında arttırmak, buna yönelik eğitim faaliyetleri düzenlemek, ağır kombine immün yetmezlik için yenidoğan tarama programını bir pilot çalışmayla Türkiye’de başlatmak, immün yetmezliklerde genetik tanı olanaklarını arttırmak bulunmaktadır.

Hacettepe Üniversitesi Çocuk İmmünoloji Bilim Dalı uluslararası işbirliği çalışmaları yanında primer immün yetmezlik hastalıklarında kök hücre nakli, genetik ve işlevsel çalışmalar konusunda öncü merkez görevi görmüştür. Bu dönemde HLA doku tiplendirme laboratuvarında hematopoietik kök hücre nakli başarısını etkileyen, tanısal anlamda çözünürlüğü daha yüksek DNA bazlı HLA doku tiplendirme testlerine geçilmiştir. Dr. Tezcan ardından Dr. Çağdaş Ayvaz Hacettepe Üniversitesi Doku Tiplendirme Laboratuvarının sorumlu yöneticiliğini sürdürmüşler, ünitede 120`den fazla ağır kombine immün yetmezlik hastasına yine ünitede gerçekleştirilen HLA analizleri ile kök hücre nakli (kemik iliği, periferik kan ve kordon kanı nakli) gerçekleştirilmiş (104), diğer immün yetmezlik tiplerinde de kök hücre nakli tedavi uygulamaları pediatrik hematoloji ünitesi ile koordineli olarak devam etmiştir (105-108). Hem immün yetmezlik hem de metabolik hastalık kategorisinde olan enzim tedavisi yanında gen tedavisi ve hematopoietik kök hücre tedavisi yapılabilen adenozin deaminaz eksikliği ile izlenen hastalar da immün sistem hastalıklarının tedavisindeki farklılığı gözönüne sermektedir (107). Genetik çalışmaların hız kazanması ile 2012 yılında Hacettepe Üniversitesi’nde immün yetmezliği (IL2 reseptör gama gen hastalığı) olan bir hastaya preimplantasyon genetik çalışmaların yardımı ile hasta ile aynı genetik hastalığı taşımayan ve HLA–doku grubu tam uyumlu kardeş donörün doğumunu takiben donörden kordon kanı nakli gerçekleştirilmiştir. Bu nakil ülkemizde preimplantasyon çalışmayı takiben immün yetmezlik alanında gerçekleştirilen ilk başarılı kordon kanı naklidir.

Hacettepe Üniversitesi Cocuk Immunoloji Laboratuvarlarinda immün yetmezlik hastalıklarında sık görülen moleküler eksiklikler için akım sitometrik yüzey ekspresyon çalışmaları, Sanger sekans analizi yanında yeni nesil dizileme çalışmaları ve tüm ekzom çalışmaları gibi genetik çalışmalar, akım sitometrik işlevsel çalışmaları tez ve proje çalışmaları ile ulusal anlamda gerçekleştirilmekte, bunun yanısıra uluslararası çalışmalarda bulunulmaktadir. Moleküler testlerin yanında kemik iliği, periferik kök hücre ve kordon kanı nakli yapan bir merkez olması nedeniyle doku tiplendirme çalışmaları ve HLA yatkınlıkları ile ilgili birçok tez ve proje çalışmalarında bulunulmaktadir.

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93. Yao Y, Du Jiang P, Chao BN, Cagdas D, Kubo S, Balasubramaniyam A, Zhang Y, Shadur B, NaserEddin A, Folio LR, Schwarz B, Bohrnsen E, Zheng L, Lynberg M, Gottlieb S, Leney-Greene MA, Park AY, Tezcan I, Akdogan A, Gocmen R, Onder S, Rosenberg A, Soilleux EJ, Johnson E, Jackson PK, Demeter J, Chauvin SD, Paul F, Selbach M, Bulut H, Clatworthy MR, Tuong ZK, Zhang H, Stewart BJ, Bosio CM, Stepensky P, Clare S, Ganesan S, Pascall JC, Daumke O, Butcher GW, McMichael AJ, Simon AK, Lenardo MJ. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans. J Exp Med. 2022 Jun 6;219(6):e20201405.
94. Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ. CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887.
95. Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nat Immunol. 2022 Jan;23(1):75-85. doi: 10.1038/s41590-021-01093-y.
96. Béziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018 Jun 15;3(24):eaat4956. doi: 10.1126/sciimmunol.aat4956.
97. 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. Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol. 2018 Sep;19(9):973-985. doi: 10.1038/s41590-018-0178-z.
98. Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child. Nat Med. 2021 Sep;27(9):1646-1654. doi: 10.1038/s41591-021-01388-5.
99. Pfajfer L, Mair NK, Jiménez-Heredia R, Genel F, Gulez N, Ardeniz Ö, Hoeger B, Bal SK, Madritsch C, Kalinichenko A, Chandra Ardy R, Gerçeker B, Rey-Barroso J, Ijspeert H, Tangye SG, Simonitsch-Klupp I, Huppa JB, van der Burg M, Dupré L, Boztug K. Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity. J Allergy Clin Immunol. 2018 Nov;142(5):1589-1604.e11.
100. Somekh I, Thian M, Medgyesi D, Gülez N, Magg T, Gallón Duque A, Stauber T, Lev A, Genel F, Unal E, Simon AJ, Lee YN, Kalinichenko A, Dmytrus J, Kraakman MJ, Schiby G, Rohlfs M, Jacobson JM, Özer E, Akcal Ö, Conca R, Patiroglu T, Karakukcu M, Ozcan A, Shahin T, Appella E, Tatematsu M, Martinez-Jaramillo C, Chinn IK, Orange JS, Trujillo-Vargas CM, Franco JL, Hauck F, Somech R, Klein C, Boztug K. CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis. Blood. 2019 Oct 31;134(18):1510-1516.
101. Conde CD, Petronczki ÖY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Förster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martínez J, Loizou JI, Ozen A, van der Burg M, Boztug K. Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress. J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.
102. Kubo S, Fritz JM, Raquer-McKay HM, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman AD, Jing X, Farley TK, Park AY, Oler AJ, Charles AK, Makhlouf M, AbouMoussa EH, Hasnah R, Saraiva LR, Ganesan S, Al-Subaiey AA, Matthews H, Flano E, Lee HH, Freeman AF, Sefer AP, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo MJ. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nat Immunol. 2022 Jan;23(1):75-85. doi: 10.1038/s41590-021-01093-y.
103. Baris S, Benamar M, Chen Q, Catak MC, Martínez-Blanco M, Wang M, Fong J, Massaad MJ, Sefer AP, Kara A, Babayeva R, Eltan SB, Yucelten AD, Bozkurtlar E, Cinel L, Karakoc-Aydiner E, Zheng Y, Wu H, Ozen A, Schmitz-Abe K, Chatila TA. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6. J Allergy Clin Immunol. 2023 Jul;152(1):182-194.e7. doi: 10.1016/j.jaci.2023.01.023
104. 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). Clinical Features and HSCT Outcome for SCID in Turkey. J Clin Immunol. 2019 Apr;39(3):316-323. doi: 10.1007/s10875-019-00610-x.
105. Kuskonmaz B, Ayvaz D, Gokce M, Ozgur TT, Okur FV, Cetin M, Tezcan I, Uckan Cetinkaya D. Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience. Pediatr Transplant. 2017 Nov;21(7). doi: 10.1111/petr.13040.
106. Kuşkonmaz B, Ayvaz D, Tezcan İ, Yüce A, Sanal Ö, Çetinkaya DU. Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome. Bone Marrow Transplant. 2018 Mar;53(3):339-343. doi: 10.1038/s41409-017-0040-1.
107. 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. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome. J Clin Immunol. 2018 May;38(4):484-493. doi: 10.1007/s10875-018-0496-9.
108. 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. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects. J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6.

Araştırma Olanakları

• • • • Flow Sitometri
      • Luminex
      • Miseq
      • Nextseq
      • Ez1
      • ABI 3100
      • Thermal Cycler/-20
      • Sekans Cihazi
      • PCR
      • RT-PCR
      • ELISA reader (450, 540, 570, 630, 650nm filtrelerle)
      • ELISA washer
      • Western Blot analiz sistemi
      • Laminar hood
      • Mikroskop
      • İnkübatör
      • Etuv
      • Spektrofotometre
      • Sıcak su banyosu
      • Shaker
      • Vorteks
      • Pipet Setleri
      • Santrifüjler
      • Mikrosantrifüj
      • Buzdolabı -80
      • Buzdolabı -20
      • Buzdolaplari

Araştırmacılar

Prof. Dr. Deniz Nazire CAGDAS AYVAZ, MD, PhD (Laboratuvar Sorumlusu)

Doc. Dr. Sevil Oskay Halaçlı, PhD

Doc. Dr. Saliha Esenboga, MD, PhDc

Arş. Gör. Dr. Hacer Neslihan Bildik, MD, PhDc

Arş. Gör Begüm Özbek, Msc, PhDc

Arş. Gör İsmail Yaz, Msc, PhDc

Dr. Baris Ulum

Mehtap Kose

Ozlem Karapinar

Menekse Kocak

Msc. Anil Isik, PhDc

Devam Eden Projeler

Tamamlanan Projeler

Yayınlar

Son 5 yilda yapilan yayinlar asagida sunulmustur:

Kahraman AB, Yaz I, Gocmen R, Aytac S, Metin A, Kilic SS, Tezcan I, Cagdas D. Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III. J Clin Immunol. 2023 Aug;43(6):1250-1258. doi: 10.1007/s10875-023-01479-7. Epub 2023 Apr 4. PubMed PMID: 37014583.

Yakıcı N, Oskay Halaçlı S, Tan Ç, Gür Çetinkaya P, T Akar H, Çavdarlı B, Özbek B, Çağdaş D, Tezcan İ. A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections. Turk Arch Pediatr. 2023 Jul;58(4):442-447. doi: 10.5152/TurkArchPediatr.2023.22311. PubMed PMID: 37317577.

Cagdas D, Ayasun R, Gulseren D, Sanal O, Tezcan I. Cutaneous Findings in Inborn Errors of Immunity: An Immunologist`s Perspective. J Allergy Clin Immunol Pract. 2023 Jun 28;. doi: 10.1016/j.jaip.2023.06.037. [Epub ahead of print] PubMed PMID: 37391021.

Çevik NN, Aytekin E, Esenboğa S, Özbek B, Aytaç S, Özen S, Karagöz T, Cagdas D. COVID-19-related multiple inflammatory syndrome-C and pulmonary embolism in Aicardi-Goutries syndrome. Pediatr Pulmonol. 2023 Jun 23;. doi: 10.1002/ppul.26551. [Epub ahead of print] PubMed PMID: 37350359.

Cetinkaya PG, Aytekin ES, Esenboga S, Cagdas D, Sahiner UM, Sekerel BE, Soyer O. Eosinophilia in children: characteristics, etiology and diagnostic algorithm. Eur J Pediatr. 2023 Jun;182(6):2833-2842. doi: 10.1007/s00431-023-04961-x. Epub 2023 Apr 12. PubMed PMID: 37041294.

Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B, Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency. J Exp Med. 2023 Feb 6;220(2). doi: 10.1084/jem.20220275. Epub 2022 Dec 14. PubMed PMID: 36515678; PubMed Central PMCID: PMC9754768.

Çalık Başaran N, Kırağı D, Tan Ç, Özışık L, Çağdaş Ayvaz ND, Kocabeyoğlu S, Öz ŞG, İrkeç M, Tezcan Fİ. Ocular Changes and Tear Cytokines in Individuals with Low Serum Vitamin D Levels: A Cross-Sectional, Controlled Study. Ocul Immunol Inflamm. 2023 Feb 2;:1-8. doi: 10.1080/09273948.2023.2168698. [Epub ahead of print] PubMed PMID: 36731535.

Parlar YE, Ayar SN, Cagdas D, Balaban YH. Liver immunity, autoimmunity, and inborn errors of immunity. World J Hepatol. 2023 Jan 27;15(1):52-67. doi: 10.4254/wjh.v15.i1.52. Review. PubMed PMID: 36744162; PubMed Central PMCID: PMC9896502.

Ayan G, Yagiz B, Cinar OE, Cagdas D, Ozbek DA, Tuncer A, Oguz KK, Ozen S, Alikasifoglu M, Karadag O. A novel variant in severe disease of DADA2: involving vasculitic and haematologic features. Scand J Rheumatol. 2023 Jan;52(1):93-95. doi: 10.1080/03009742.2022.2095724. Epub 2022 Jul 19. PubMed PMID: 35852217.

Baris S, Abolhassani H, Massaad MJ, Al-Nesf M, Chavoshzadeh Z, Keles S, Reisli I, Tahiat A, Shendi HM, Elaziz DA, Belaid B, Al Dhaheri F, Haskologlu S, Dogu F, Ben-Mustapha I, Sobh A, Galal N, Meshaal S, Elhawary R, El-Marsafy A, Alroqi FJ, Al-Saud B, Al-Ahmad M, Al Farsi T, Al Sukaiti N, Al-Tamemi S, Mehawej C, Dbaibo G, ElGhazali G, Kilic SS, Genel F, Kiykim A, Musabak U, Artac H, Guner SN, Boukari R, Djidjik R, Kechout N, Cagdas D, El-Sayed ZA, Karakoc-Aydiner E, Alzyoud R, Barbouche MR, Adeli M, Wakim RH, Reda SM, Ikinciogullari A, Ozen A, Bousfiha A, Al-Mousa H, Rezaei N, Al-Herz W, Geha RS. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity. J Allergy Clin Immunol Pract. 2023 Jan;11(1):158-180.e11. doi: 10.1016/j.jaip.2022.10.003. Epub 2022 Oct 17. Review. PubMed PMID: 36265766.

Yeşil AM, Kayaoğlu B, Gül E, Gönç N, Özön A, Tezcan İ, Gürsel M, Çağdaş D. DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection. Turk J Pediatr. 2023;65(3):536-541. doi: 10.24953/turkjped.2020.1934. PubMed PMID: 37395973.

Ozbek B, Ayvaz DÇ, Esenboga S, Halaçlι SO, Aytekin ES, Yaz I, Tan Ç, Tezcan I. In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency. Asian Pac J Allergy Immunol. 2022 Dec;40(4):442-446. doi: 10.12932/AP-260719-0610. PubMed PMID: 31837214.

Süleyman M, Serin O, Koçali B, Orhan D, Yalçın EE, Özçelik U, Ceyhan M, Kiper N, Tezcan İ, Dogru D, Çağdaş D. High Inborn Errors of Immunity Risk in Patients with Granuloma. J Clin Immunol. 2022 Nov;42(8):1795-1809. doi: 10.1007/s10875-022-01342-1. Epub 2022 Aug 18. PubMed PMID: 35980494.

Akarsu A, Halaçlı S, Tan Ç, Kuşkonmaz B, Küpesiz A, Çetinkaya D, Sanal Ö, Tezcan İ, Çağdaş D. A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects. Scand J Immunol. 2022 Nov;96(5):e13213. doi: 10.1111/sji.13213. Epub 2022 Sep 1. PubMed PMID: 36808635.

Sener S, Basaran O, Batu ED, Atalay E, Esenboga S, Cagdas D, Kuskonmaz BB, Bilginer Y, Ozaltin F, Oguz B, Duzova A, Tezcan I, Ozen S. Childhood-onset Takayasu arteritis and immunodeficiency: case-based review. Clin Rheumatol. 2022 Sep;41(9):2883-2892. doi: 10.1007/s10067-022-06295-9. Epub 2022 Jul 20. Review. PubMed PMID: 35854168.

Rovshanov S, Göçmen R, Barişta İ, Çağdaş D, Üner A, Çilingir V, Filik İT, Tan Ç, Aytekin ES, Tezcan İ, Özen PA, Tuncer A. A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect. Noro Psikiyatr Ars. 2022;59(3):248-252. doi: 10.29399/npa.27900. eCollection 2022. PubMed PMID: 36160072; PubMed Central PMCID: PMC9466633.

Borman P, Balcan A, Eyigör S, Coşkun E, Ayhan F, Çakıt BD, Vural S, Vural M, Çakır EDP, Çağdaş D, Yaman A, Cerrahoğlu L, Doğan SC. The clinical and demographical characteristics of Turkish pediatric lymphedema patients: a multicenter study. Turk J Med Sci. 2022 Aug;52(4):1139-1147. doi: 10.55730/1300-0144.5417. Epub 2022 Aug 10. PubMed PMID: 36326366; PubMed Central PMCID: PMC10387833.

Ozsezen B, Yalçın E, Ademhan Tural D, Sunman B, Nayır Buyuksahin H, Guzelkas İ, Alboga D, Aytekin ES, Esenboga S, Emiralioglu N, Cagdas D, Doğru D, Özçelik U, Tezcan I, Kiper N. Antimycobacterial prophylaxis regarding Bacillus Calmette-Guérin -associated complications in children with primary immunodeficiency. Respir Med. 2022 Aug-Sep;200:106919. doi: 10.1016/j.rmed.2022.106919. Epub 2022 Jun 16. PubMed PMID: 35779416.

Acar B, Gümüş E, Özcan-Bulut S, Özşin-Özler C, Boyraz MS, Tan Ç, Yaz I, Özbek B, Cagdas D, Saltık-Temizel İN, Demir H, Özen H, Karabulut E, Tezcan İ, Yüce A, Berker E. Cytokine profile in serum and gingival crevicular fluid of children with inflammatory bowel disease: A case-control study. J Periodontol. 2022 Jul;93(7):1048-1059. doi: 10.1002/JPER.21-0514. Epub 2021 Dec 22. PubMed PMID: 34730850.

Bildik HN, Cagdas D, Ozturk Kura A, Oskay Halacli S, Sanal O, Tezcan I. Clinical, Laboratory Features and Clinical Courses of Patients with Wiskott Aldrich Syndrome and X-linked Thrombocytopenia-A single center study. Immunol Invest. 2022 Jul;51(5):1272-1283. doi: 10.1080/08820139.2021.1933516. Epub 2021 Jun 7. PubMed PMID: 34098853.

Kuskonmaz B, Ayvaz D, Okur FV, Aydın B, Tezcan I, Uckan Cetinkaya D. First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up. Bone Marrow Transplant. 2022 Jul;57(7):1210-1212. doi: 10.1038/s41409-022-01704-8. Epub 2022 May 14. PubMed PMID: 35568755; PubMed Central PMCID: PMC9106979.

Yao Y, Du Jiang P, Chao BN, Cagdas D, Kubo S, Balasubramaniyam A, Zhang Y, Shadur B, NaserEddin A, Folio LR, Schwarz B, Bohrnsen E, Zheng L, Lynberg M, Gottlieb S, Leney-Greene MA, Park AY, Tezcan I, Akdogan A, Gocmen R, Onder S, Rosenberg A, Soilleux EJ, Johnson E, Jackson PK, Demeter J, Chauvin SD, Paul F, Selbach M, Bulut H, Clatworthy MR, Tuong ZK, Zhang H, Stewart BJ, Bosio CM, Stepensky P, Clare S, Ganesan S, Pascall JC, Daumke O, Butcher GW, McMichael AJ, Simon AK, Lenardo MJ. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans. J Exp Med. 2022 Jun 6;219(6). doi: 10.1084/jem.20201405. Epub 2022 May 13. PubMed PMID: 35551368; PubMed Central PMCID: PMC9111091.

Demirtas D, Cagdas D, Turul Ozgur T, Kuskonmaz B, Uckan Cetinkaya D, Sanal O, Tezcan I. Long Term Follow-Up of the Patients with Severe Combined Immunodeficiency After Hematopoietic Stem Cell Transplantation: A Single-Center Study. Immunol Invest. 2022 May;51(4):739-747. doi: 10.1080/08820139.2020.1869776. Epub 2021 Jan 21. PubMed PMID: 33472463.

Esenboga S, Cagdas D, Alkanat NE, Güler Tezel G, Ersoy Evans S, Boztug K, Tezcan I. TMC8 mutation in a Turkish family with epidermodysplasia verruciformis including laryngeal papilloma and recurrent skin carcinoma. J Cosmet Dermatol. 2022 May;21(5):2263-2267. doi: 10.1111/jocd.14393. Epub 2021 Aug 20. PubMed PMID: 34416085.

Süleyman M, Tan Ç, Uner A, İnkaya Ç, Aytaç S, Büyükaşık Y, Boztug K, Tezcan İ, Cagdas D. Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features. Immunol Invest. 2022 Apr;51(3):558-566. doi: 10.1080/08820139.2020.1853153. Epub 2020 Dec 2. PubMed PMID: 33705245.

Torun B, Bilgin A, Orhan D, Gocmen R, Kılıc SS, Kuskonmaz B, Cetinkaya D, Tezcan I, Cagdas D. Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients. Eur J Med Genet. 2022 Mar;65(3):104428. doi: 10.1016/j.ejmg.2022.104428. Epub 2022 Jan 19. PubMed PMID: 35063692.

Saglam A, Cagdas D, Aydin B, Keles S, Reisli I, Arslankoz S, Katipoglu K, Uner A. STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature. Virchows Arch. 2022 Feb;480(2):393-401. doi: 10.1007/s00428-021-03147-w. Epub 2021 Oct 4. Review. PubMed PMID: 34604912.

Çalık Başaran N, Tan Ç, Özışık L, Özbek B, İnkaya AÇ, Alp Ş, Ersoy EO, Ayvaz DÇ, Tezcan İ. Evaluation of the peripheral blood T and B cell subsets and IRF-7 variants in adult patients with severe influenza virus infection. Health Sci Rep. 2022 Jan;5(1):e492. doi: 10.1002/hsr2.492. eCollection 2022 Jan. PubMed PMID: 35229048; PubMed Central PMCID: PMC8865064.

Aydin Goker ET, Cagdas D, Bajin IY, Kukul MG, Aytekin ES, Orhan D, Alp A, Uzar S, Sarac F, Kara A, Kutluk MT. Multicentric Castleman disease in a DOCK8-deficient patient with Orf virus infection. Pediatr Allergy Immunol. 2022 Jan;33(1):e13666. doi: 10.1111/pai.13666. Epub 2021 Nov 18. PubMed PMID: 34792227.

Karhan AN, Esenboğa S, Gümüş E, Karaatmaca B, Cagdas D, Demir H, Saltik Temizel İN, Özen H, Yüce A, Tezcan İ. Nutritional status of children with primary immunodeficiency: A single center experience. Pediatr Int. 2022 Jan;64(1):e14996. doi: 10.1111/ped.14996. Epub 2021 Nov 23. PubMed PMID: 34533857.

Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Rawat A, Vignesh P, Madkaikar M, Stasia MJ, Bakri FG, de Boer M, Roesler J, Köker N, Köker MY, Jakobsen M, Bustamante J, Garcia-Morato MB, Shephard JLV, Cagdas D, Tezcan I, Sherkat R, Mortaz E, Fayezi A, Shahrooei M, Wolach B, Blancas-Galicia L, Kanegane H, Kawai T, Condino-Neto A, Vihinen M, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update). Blood Cells Mol Dis. 2021 Dec;92:102596. doi: 10.1016/j.bcmd.2021.102596. Epub 2021 Jul 28. PubMed PMID: 34547651.

Esenboga S, Oguz B, Cagdas D, Karaatmaca B, Emiralioglu N, Yalcin E, Dogru D, Ozcelik U, Kiper N, Tezcan İ. Respiratory system findings in pediatric patients with primary immunodeficiency. Pediatr Pulmonol. 2021 Dec;56(12):4011-4019. doi: 10.1002/ppul.25657. Epub 2021 Sep 9. PubMed PMID: 34499824.

Cagdas D. Maternofetal Transfusion, Maternal Chimerism, and Maternal Engraftment: A Mystery in Health and Disease. J Allergy Clin Immunol Pract. 2021 Nov;9(11):4154-4155. doi: 10.1016/j.jaip.2021.08.022. PubMed PMID: 34749950.

Gülseren D, Tan Ç, Yaz İ, Özbek B, Çağdaş D, Tezcan İ. Expression of HLA class I and class II genes in patients with multiple skin warts. Exp Dermatol. 2021 Nov;30(11):1642-1649. doi: 10.1111/exd.14362. Epub 2021 May 5. PubMed PMID: 33896076.

Soyak Aytekin E, Keskin A, Tan C, Yalçın E, Dogru D, Ozcelik U, Kiper N, Tezcan I, Cagdas D. Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study. Scand J Immunol. 2021 Oct;94(4):e13084. doi: 10.1111/sji.13084. Epub 2021 Jul 28. PubMed PMID: 34780073.

Cagdas D, Halacli SO, Tan C, Esenboga S, Karaatmaca B, Cetinkaya PG, Balcı-Hayta B, Ayhan A, Uner A, Orhan D, Boztug K, Ozen S, Topaloglu R, Sanal O, Tezcan I. Diversity in Serine/Threonine Protein Kinase-4 Deficiency and Review of the Literature. J Allergy Clin Immunol Pract. 2021 Oct;9(10):3752-3766.e4. doi: 10.1016/j.jaip.2021.05.032. Epub 2021 Jun 17. Review. PubMed PMID: 34146746.

Yaz I, Ozbek B, Bildik HN, Tan C, Oskay Halacli S, Soyak Aytekin E, Esenboga S, Cekic S, Kilic SS, Keskin O, van Leeuwen K, Roos D, Cagdas D, Tezcan I. Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey. Clin Exp Immunol. 2021 Oct;206(1):47-55. doi: 10.1111/cei.13645. Epub 2021 Aug 5. PubMed PMID: 34310689; PubMed Central PMCID: PMC8446394.

Esenboga S, Ocak M, Akarsu A, Bildik HN, Cagdas D, Iskit AT, Tezcan I. COVID-19 in Patients with Primary Immunodeficiency. J Clin Immunol. 2021 Oct;41(7):1515-1522. doi: 10.1007/s10875-021-01065-9. Epub 2021 Jul 6. PubMed PMID: 34231093; PubMed Central PMCID: PMC8260154.

Roos D, van Leeuwen K, Hsu AP, Priel DL, Begtrup A, Brandon R, Stasia MJ, Bakri FG, Köker N, Köker MY, Madkaika M, de Boer M, Garcia-Morato MB, Shephard JLV, Roesler J, Kanegane H, Kawai T, Di Matteo G, Shahrooei M, Bustamante J, Rawat A, Vignesh P, Mortaz E, Fayezi A, Cagdas D, Tezcan I, Kitcharoensakkul M, Dinauer MC, Meyts I, Wolach B, Condino-Neto A, Zerbe CS, Holland SM, Malech HL, Gallin JI, Kuhns DB. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update). Blood Cells Mol Dis. 2021 Sep;90:102587. doi: 10.1016/j.bcmd.2021.102587. Epub 2021 Jun 2. Review. PubMed PMID: 34175765.

Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Béziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child. Nat Med. 2021 Sep;27(9):1646-1654. doi: 10.1038/s41591-021-01388-5. Epub 2021 Jun 28. PubMed PMID: 34183838; PubMed Central PMCID: PMC8446316.

Cagdas D, Mayr D, Baris S, Worley L, Langley DB, Metin A, Aytekin ES, Atan R, Kasap N, Bal SK, Dmytrus J, Heredia RJ, Karasu G, Torun SH, Toyran M, Karakoc-Aydiner E, Christ D, Kuskonmaz B, Uçkan-Çetinkaya D, Uner A, Oberndorfer F, Schiefer AI, Uzel G, Deenick EK, Keller B, Warnatz K, Neven B, Durandy A, Sanal O, Ma CS, Özen A, Stepensky P, Tezcan I, Boztug K, Tangye SG. Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency. J Clin Immunol. 2021 Aug;41(6):1272-1290. doi: 10.1007/s10875-021-01031-5. Epub 2021 Apr 30. PubMed PMID: 33929673; PubMed Central PMCID: PMC8086229.

Caka C, Cimen O, Kahyaoğlu P, Tezcan İ, Cagdas D. Selective IgM deficiency: Follow-up and outcome. Pediatr Allergy Immunol. 2021 Aug;32(6):1327-1334. doi: 10.1111/pai.13497. Epub 2021 Mar 29. PubMed PMID: 33706406.

Akar HT, Esenboga S, Cagdas D, Halacli SO, Ozbek B, van Leeuwen K, de Boer M, Tan CS, Köker Y, Roos D, Tezcan I. Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience. J Clin Immunol. 2021 Jul;41(5):992-1003. doi: 10.1007/s10875-021-01002-w. Epub 2021 Feb 24. PubMed PMID: 33629196.

Ozbek B, Tan C, Yaz I, Kosukcu C, Esenboga S, Cetinkaya PG, Cagdas D, Tezcan I. Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey. Immunol Invest. 2021 May;50(4):363-371. doi: 10.1080/08820139.2020.1759622. Epub 2020 May 5. PubMed PMID: 32370566.

Cagdas D. Convalescent plasma and hyperimmune globulin therapy in COVID-19. Expert Rev Clin Immunol. 2021 Apr;17(4):309-316. doi: 10.1080/1744666X.2021.1894927. Epub 2021 Mar 12. Review. PubMed PMID: 33620014.

Acar B, Cagdas D, Tan Ç, Özbek B, Yaz İ, Yıldırım YD, Özşin-Özler C, Karaatmaca B, Gür-Çetinkaya P, Soyak E, Karabulut E, Tezcan İ, Berker E. Correction to: Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia. Odontology. 2021 Apr;109(2):483. doi: 10.1007/s10266-020-00574-0. PubMed PMID: 33377171.

Acar B, Cagdas D, Tan Ç, Özbek B, Yaz İ, Yıldırım YD, Özşin-Özler C, Karaatmaca B, Gür-Çetinkaya P, Soyak E, Karabulut E, Tezcan İ, Berker E. Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia. Odontology. 2021 Apr;109(2):474-482. doi: 10.1007/s10266-020-00565-1. Epub 2020 Nov 7. PubMed PMID: 33159599.

Çağdaş D. Living the SARS-CoV-2 pandemic in Turkey. Nat Immunol. 2021 Mar;22(3):260. doi: 10.1038/s41590-021-00887-4. PubMed PMID: 33627882.

Soyak Aytekin E, Çağdaş D, Tan C, Tezcan İ. Characteristics of patients with C1 esterase inhibitor deficiency: a single center study. Eur Ann Allergy Clin Immunol. 2021 Mar;53(2):75-79. doi: 10.23822/EurAnnACI.1764-1489.146. Epub 2021 Mar 1. PubMed PMID: 32351099.

Aytekin ES, Çağdaş D, Tan Ç, Çavdarlı B, Bilgiç I, Tezcan İ. Hematopoietic stem cell transplantation complicated with EBV associated hemophagocytic lymphohistiocytosis in a patient with DOCK2 deficiency. Turk J Pediatr. 2021;63(6):1072-1077. doi: 10.24953/turkjped.2021.06.016. PubMed PMID: 35023658.

Soyak Aytekin E, Serin O, Cagdas D, Tan C, Aksu T, Unsal Y, Yeni S, Orhan D, Ozon ZA, Tezcan I. A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess. Pediatr Infect Dis J. 2021 Jan;40(1):66-69. doi: 10.1097/INF.0000000000002887. PubMed PMID: 33284251.

Firtina S, Yin Ng Y, Hatirnaz Ng O, Kiykim A, Aydiner E, Nepesov S, Camcioglu Y, Sayar EH, Reisli I, Torun SH, Cogurlu T, Uygun D, Simsek IE, Kaya A, Cipe F, Cagdas D, Yucel E, Cekic S, Uygun V, Baris S, Ozen A, Ozbek U, Sayitoglu M. Mutational landscape of severe combined immunodeficiency patients from Turkey. Int J Immunogenet. 2020 Dec;47(6):529-538. doi: 10.1111/iji.12496. Epub 2020 May 22. PubMed PMID: 32445296.

Çağdaş D, Pehlivantürk Kizılkan M, Tagiyev A, Emiralioğlu N, Keleş A, Yalçın E, Doğru D, Özçelik U, Kiper N, Tezcan İ. Primary Immunodeficiency Disorders in children with Non-Cystic Fibrosis Bronchiectasis. Eur Ann Allergy Clin Immunol. 2020 Nov;52(6):271-276. doi: 10.23822/EurAnnACI.1764-1489.151. Epub 2020 Nov 3. PubMed PMID: 32372587.

Cetinkaya PG, Cagdas D, Gumruk F, Tezcan I. Hemophagocytic Lymphohistiocytosis in Patients With Primary Immunodeficiency. J Pediatr Hematol Oncol. 2020 Aug;42(6):e434-e439. doi: 10.1097/MPH.0000000000001803. PubMed PMID: 32324696.

Cetinkaya PG, Cagdas D, Arikoglu T, Gumruk F, Tezcan I. Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency. J Pediatr Endocrinol Metab. 2020 Jul 28;33(7):957-961. doi: 10.1515/jpem-2019-0541. PubMed PMID: 32623377.

Altintas B, Cagdas D, van Leeuwen K, de Boer M, Roos D, Tezcan İ. Recurrent skin abscesses in a female X-linked chronic granulomatous disease carrier. J Cosmet Dermatol. 2020 Jul;19(7):1810-1812. doi: 10.1111/jocd.13351. Epub 2020 Mar 10. PubMed PMID: 32154974.

Solmaz I, Aytekin ES, Çağdaş D, Tan C, Tezcan I, Gocmen R, Haliloglu G, Anlar B. Recurrent Demyelinating Episodes as Sole Manifestation of Inherited CD59 Deficiency. Neuropediatrics. 2020 Jun;51(3):206-210. doi: 10.1055/s-0039-3399583. Epub 2019 Nov 21. PubMed PMID: 31752029.

Dogru D, Polat SE, Tan Ç, Tezcan İ, Yalçın SS, Utine E, Oğuz B, Yaz İ, Emiralioğlu N, Hızal M, Yalçın E, Özçelik U, Çağdaş D, Kiper N. Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. Pediatr Pulmonol. 2020 May;55(5):1190-1198. doi: 10.1002/ppul.24711. Epub 2020 Mar 2. PubMed PMID: 32119194.

Çağdaş D, Sürücü N, Tan Ç, Kayaoğlu B, Özgül RK, Akkaya-Ulum YZ, Aydınoğlu AT, Aytaç S, Gümrük F, Balci-Hayta B, Balci-Peynircioğlu B, Özen S, Gürsel M, Tezcan İ. Autoinflammation in addition to combined immunodeficiency: SLC29A3 gene defect. Mol Immunol. 2020 May;121:28-37. doi: 10.1016/j.molimm.2020.02.014. Epub 2020 Mar 6. PubMed PMID: 32151906.

Karaatmaca B, Cagdas D, Tan Ç, Aytaç S, Özbek B, Üner A, Gümrük F, Tezcan İ. A rare form of congenital neutropenia: VPS45 deficiency. Scand J Immunol. 2020 May;91(5):e12871. doi: 10.1111/sji.12871. Epub 2020 Feb 27. PubMed PMID: 32037586.

Yaz I, Ozbek B, Ng YY, Cetinkaya PG, Halacli SO, Tan C, Kasikci M, Kosukcu C, Tezcan I, Cagdas D. Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study. J Clin Immunol. 2020 Apr;40(3):494-502. doi: 10.1007/s10875-020-00761-2. Epub 2020 Feb 14. PubMed PMID: 32056073.

Sönmez HE, Karaaslan C, de Jesus AA, Batu ED, Anlar B, Sözeri B, Bilginer Y, Karaguzel D, Cagdas Ayvaz D, Tezcan I, Goldbach-Mansky R, Ozen S. A clinical score to guide in decision making for monogenic type I IFNopathies. Pediatr Res. 2020 Mar;87(4):745-752. doi: 10.1038/s41390-019-0614-2. Epub 2019 Oct 22. PubMed PMID: 31641281; PubMed Central PMCID: PMC8425764.

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. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2. J Rheumatol. 2020 Jan;47(1):117-125. doi: 10.3899/jrheum.181384. Epub 2019 May 1. PubMed PMID: 31043544.

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. ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. Am J Med Genet A. 2019 Dec;179(12):2474-2480. doi: 10.1002/ajmg.a.61363. Epub 2019 Oct 4. PubMed PMID: 31584751.

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. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects. J Clin Immunol. 2019 Oct;39(7):726-738. doi: 10.1007/s10875-019-00677-6. Epub 2019 Aug 20. PubMed PMID: 31432443.

Donmez S, Çağdaş L, Arslan H, Arslan F. Electrochemical nucleic acid hybridization biosensor based on poly(L-Aspartic acid)-modified electrode for the detection of short oligonucleotide sequences related to hepatitis C virus 1a. Prep Biochem Biotechnol. 2019;49(9):900-907. doi: 10.1080/10826068.2019.1636279. Epub 2019 Jul 4. PubMed PMID: 31271333.

Okur FV, Kuskonmaz B, Cagdas D, Tezcan I, Uckan-Cetinkaya D. Bone marrow transplantation with Favorable outcome in three patients with LPS-responsive beige-like anchor (LRBA) deficiency. Clin Immunol. 2019 Jun;203:162-165. doi: 10.1016/j.clim.2019.04.011. Epub 2019 Apr 23. PubMed PMID: 31026575.

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. Clinical Features and HSCT Outcome for SCID in Turkey. J Clin Immunol. 2019 Apr;39(3):316-323. doi: 10.1007/s10875-019-00610-x. Epub 2019 Mar 28. PubMed PMID: 30924026.

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. Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function. Haematologica. 2019 Mar;104(3):609-621. doi: 10.3324/haematol.2018.194233. Epub 2018 Oct 11. PubMed PMID: 30309848; PubMed Central PMCID: PMC6395342.

Bağlantılar

https://labs.sanayi.gov.tr/Ara?a=pediatrik%20imm%C3%BCnoloji%20hacettepe