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Journals / Sağlık Bilimlerinde Değer / 2023 / Cilt: 13 Sayı: 2

Wiskott Aldrich Syndrome: Short Review

Wiskott Aldrich Sendromu: Kısa Derleme

Ümmügülsüm DİKİCİ
Öner ÖZDEMİR
Pages
276–281
Publication Date
2023-05-10
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Autologous gene therapy appears to be a promising alternative to allogeneic stem cell transplantation for patients without a donor.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Wiskott Aldrich Syndrome (WAS) is a rare X-linked recessive genetic disorder.
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Key Findings & Data:WAS patients have an increased risk of autoimmune disease (autoimmune hemolytic anemia, vasculitis, inflammatory bowel disease) and malignancy (especially lymphoma), along with a predisposition to bacterial, fungal and viral infections.
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Conclusion & Impact:Autologous gene therapy appears to be a promising alternative to allogeneic stem cell transplantation for patients without a donor.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Wiskott-Aldrich sendromu · trombositopeni · egzama

Abstract

Wiskott Aldrich Syndrome (WAS) is a rare X-linked recessive genetic disorder. It is caused by a mutation in the WAS protein (WASp) gene. The WAS protein plays a role in actin cytoskeleton organization and signaling, as well as a critical role in the function of immune system cells. The characteristic clinical triad of the disease is microthrombocytopenia, eczema and immunodeficiency. The clinical picture of the patients varies from severe phenotype (classical WAS) to milder ones (X-linked thrombocytopenia (XLT) and X-linked neutropenia) depending on the type of WASP mutation. WAS patients have an increased risk of autoimmune disease (autoimmune hemolytic anemia, vasculitis, inflammatory bowel disease) and malignancy (especially lymphoma), along with a predisposition to bacterial, fungal and viral infections. Treatment management in WAS patients should be individualized according to the clinical phenotype. Prophylactic antibiotics and intravenous immunoglobulin replacement therapy are used for infections. Allogeneic hematopoietic stem cell transplantation is the gold standard treatment for patients with WAS, providing correction of underlying immunodeficiency and thrombocytopenia. Recently, hematopoietic stem cell gene therapy has also come to the fore as a potential therapeutic strategy. Autologous gene therapy appears to be a promising alternative to allogeneic stem cell transplantation for patients without a donor.

Özet

Wiskott Aldrich Sendromu (WAS) X’e bağlı resesif kalıtılan, nadir görülen genetik bir hastalıktır. WAS proteini (WASp) genindeki mutasyondan kaynaklanmaktadır. WAS proteini aktin hücre iskeleti organizasyonu ve sinyalizasyonunda rol oynar, bunun yanında bağışıklık sistemi hücrelerinin işlevlerinde kritik bir rol sahibidir. Hastalığın karakteristik klinik triadı mikrotrombositopeni, egzama ve immun yetmezliktir. Hastaların kliniği WASP mutasyonunun tipine göre şiddetli fenotipten (klasik WAS) daha hafif olanlara (X'e bağlı trombositopeni (XLT) ve X'e bağlı nötropeni) kadar değişiklik göstermektedir. WAS hastalarında bakteriyal, fungal ve viral enfeksiyonlara yatkınlıkla beraber, otoimmun hastalık (otoimmun hemolitik anemi, vaskülit, inflamatuar barsak hastalığı) ve malignite (özellikle lenfoma) riski artmıştır. WAS hastalarında tedavi yönetimi, klinik fenotipe göre bireyselleştirilmelidir. Enfeksiyonlara yönelik profilaktik antibiyoterapi ve intravenöz immünoglobulin replasman tedavisi uygulanmaktadır. Allojenik hematopoietik kök hücre nakli ise WAS'lı hastalar için altta yatan immün yetmezlik ve trombositopeninin düzeltilmesini sağlayan altın standart tedavidir. Son zamanlarda hematopoietik kök hücre gen tedavisi de potansiyel terapötik strateji olarak gündeme gelmiştir. Otolog gen tedavisi, allojenik kök hücre nakli için donörü olmayan hastalara umut verici bir alternatif olarak görünmektedir.

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Cite This Article

DİKİCİ, Ü., ÖZDEMİR, Ö. (2023). Wiskott Aldrich Syndrome: Short Review. Sağlık Bilimlerinde Değer, Cilt: 13 Sayı: 2, 276–281. https://ajindex.com/articles/935562

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