Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience

ÖZTÜRK, Gökcan; ÖZTÜRK, Ayşenur; Kostel Bal, Sevgi; BASKIN, Kübra; İKİNCİOĞULLARI, Aydan; Ceylaner, Serdar; HASKOLOĞLU, Şule; SATIROĞLU, Lale TUFAN; İslamoğlu, Candan; Dogu, Figen

doi:10.4274/tjh.galenos.2020.2020.0334

Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience

Şule HASKOLOĞLU, (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Ayşenur ÖZTÜRK, (Ankara Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genetik Hastalıklar Anabilim Dalı, Ankara, Türkiye)

Gökcan ÖZTÜRK, (Ankara Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Ankara, Türkiye)

Sevgi KOSTEL BAL, (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Candan İSLAMOĞLU, (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Kübra BASKIN, (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Serdar CEYLANER, (Intergen Genetik Tanı Merkezi, Ankara, Türkiye)

Lale TUFAN SATIROĞLU, (Ankara Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genetik Hastalıklar Anabilim Dalı, Ankara, Türkiye)

Figen DOĞU, (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Aydan İKİNCİOĞULLARI (Ankara Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, İmmünoloji ve Alerji Bölümü, Ankara, Türkiye)

Turkish Journal of Hematology

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Yıl: 2020 Cilt: 37 Sayı: 4 Sayfa Aralığı: 271 - 281 Metin Dili: İngilizce DOI: 10.4274/tjh.galenos.2020.2020.0334 İndeks Tarihi: 05-07-2021

Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience

Öz:

Objective: Wiskott-Aldrich syndrome (WAS) is an X-linked primaryimmune deficiency characterized by microthrombocytopenia, eczema,and recurrent infections. We aimed to evaluate the clinical featuresand outcomes of a WAS cohort.Materials and Methods: We retrospectively evaluated the clinicalcourses, immunological features, treatments, and outcomes in a totalof 23 WAS patients together with data related to 11 transplantedcases among them between 1982 and 2019.Results: Before admission, 11 patients (48%) were misdiagnosed withimmune thrombocytopenia. WAS scores were mostly 4 or 5. Elevenpatients were transplanted and they had an overall survival rate of100% during a median follow-up period of 8.5 years (range: 8 monthsto 20 years). Five patients who were not transplanted died at a medianof 7 years (range: 2-26 years). Nontransplanted patients had highmorbidity due to organ damage, mostly caused by autoimmunity,bleeding, and infections. Two novel mutations were also defined.Conclusion: All male babies with microthrombocytopenia should beevaluated for WAS. Hematopoietic stem cell transplantation should beperformed at the earliest age with the best possible donors

Anahtar Kelime:

Wiskott-Aldrich Sendromlu 23 Hastanın Klinik Özellikleri ve Sonuçları: Tek Merkez Deneyimi

Öz:

Amaç: Wiskott-Aldrich Sendromu (WAS) X’e bağlı geçen mikrotrombositopeni, egzema ve tekrarlayan enfeksiyonlarla karakterize bir primer immün yetmezliktir. Gereç ve Yöntemler: 1982-2019 yılları arasında izlediğimiz toplam 23 WAS’li hastanın klinik seyirleri, immünolojik özellikleri ve nakil yapılan 11 hastanın nakil ilişkili verileri retrospektif olarak değerlendirildi. Bulgular: Başvurudan önce 11 hasta yanlışlıkla immün trombositopeni tanısı almıştı. WAS skoru çoğunlukla 4 ve 5 puandı. On bir hastaya nakil yapıldı ve ortanca 8,5 yıl (8 ay-20 yıl) izlem süresinde hayatta kalma oranı %100 oldu. Nakil yapılamayan 5 hasta ortanca 7 yılda (2- 26 yıl) kaybedildi. Nakil yapılmayan hastalar çoğunlukla otoimmünite, kanama ve enfeksiyonların neden olduğu organ hasarları nedeniyle yüksek morbiditeye sahipti. Ayrıca, iki yeni mutasyon tanımlandı. Sonuç: Mikrotrombositopenisi olan tüm erkek bebekler WAS açısından değerlendirilmelidir. Hematopoetik kök hücre nakli mümkün olan en iyi donörlerle en erken yaşta yapılmalıdır.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Kısa Bildiri Erişim Türü: Erişime Açık

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APA	HASKOLOĞLU Ş, ÖZTÜRK A, ÖZTÜRK G, Kostel Bal S, İslamoğlu C, BASKIN K, Ceylaner S, SATIROĞLU L, Dogu F, İKİNCİOĞULLARI A (2020). Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. , 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
Chicago	HASKOLOĞLU Şule,ÖZTÜRK Ayşenur,ÖZTÜRK Gökcan,Kostel Bal Sevgi,İslamoğlu Candan,BASKIN Kübra,Ceylaner Serdar,SATIROĞLU Lale TUFAN,Dogu Figen,İKİNCİOĞULLARI Aydan Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. (2020): 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
MLA	HASKOLOĞLU Şule,ÖZTÜRK Ayşenur,ÖZTÜRK Gökcan,Kostel Bal Sevgi,İslamoğlu Candan,BASKIN Kübra,Ceylaner Serdar,SATIROĞLU Lale TUFAN,Dogu Figen,İKİNCİOĞULLARI Aydan Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. , 2020, ss.271 - 281. 10.4274/tjh.galenos.2020.2020.0334
AMA	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. . 2020; 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
Vancouver	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. . 2020; 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
IEEE	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A "Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience." , ss.271 - 281, 2020. 10.4274/tjh.galenos.2020.2020.0334
ISNAD	HASKOLOĞLU, Şule vd. "Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience". (2020), 271-281. https://doi.org/10.4274/tjh.galenos.2020.2020.0334

APA	HASKOLOĞLU Ş, ÖZTÜRK A, ÖZTÜRK G, Kostel Bal S, İslamoğlu C, BASKIN K, Ceylaner S, SATIROĞLU L, Dogu F, İKİNCİOĞULLARI A (2020). Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology, 37(4), 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
Chicago	HASKOLOĞLU Şule,ÖZTÜRK Ayşenur,ÖZTÜRK Gökcan,Kostel Bal Sevgi,İslamoğlu Candan,BASKIN Kübra,Ceylaner Serdar,SATIROĞLU Lale TUFAN,Dogu Figen,İKİNCİOĞULLARI Aydan Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology 37, no.4 (2020): 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
MLA	HASKOLOĞLU Şule,ÖZTÜRK Ayşenur,ÖZTÜRK Gökcan,Kostel Bal Sevgi,İslamoğlu Candan,BASKIN Kübra,Ceylaner Serdar,SATIROĞLU Lale TUFAN,Dogu Figen,İKİNCİOĞULLARI Aydan Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology, vol.37, no.4, 2020, ss.271 - 281. 10.4274/tjh.galenos.2020.2020.0334
AMA	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology. 2020; 37(4): 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
Vancouver	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience. Turkish Journal of Hematology. 2020; 37(4): 271 - 281. 10.4274/tjh.galenos.2020.2020.0334
IEEE	HASKOLOĞLU Ş,ÖZTÜRK A,ÖZTÜRK G,Kostel Bal S,İslamoğlu C,BASKIN K,Ceylaner S,SATIROĞLU L,Dogu F,İKİNCİOĞULLARI A "Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience." Turkish Journal of Hematology, 37, ss.271 - 281, 2020. 10.4274/tjh.galenos.2020.2020.0334
ISNAD	HASKOLOĞLU, Şule vd. "Clinical Features and Outcomes of 23 Patients with WiskottAldrich Syndrome: A Single-Center Experience". Turkish Journal of Hematology 37/4 (2020), 271-281. https://doi.org/10.4274/tjh.galenos.2020.2020.0334