Öner ÖZDEMİR

Günlük Klinik Rutinde Sık Kullanılan Basit Laboratuvar Testlerinden (Primer) İmmün Yetmezlik Hastalığına Yaklaşım

Primer immnünyetmezlik hastalığı (PİYH) bağışıklık sisteminin değişik unsurlarının doğumsal bozukluklarına bağlı meydana gelen bozukluklardır. PİYH enfeksiyona eğilimle sonuçlanır ve sıklıkla otoimmüniteye ve/veya immünregülasyon bozukluğu yatkınlığa eşlik eder. Üç yüz otuzdan daha fazla PİYH tanımlanmıştır ve bunların 320’den fazlasının moleküler temeli belirlenmiştir. İçlerinde primer antikor eksiklikleri en sık rastlanan gruptur ve yaklaşık PİYH’nin yarısından fazlasında bulunur. Artan oranda geç başlangıçlı vakalar tanınmasına rağmen, PİYH klinik bulguları tipik olarak yaşamın erken döneminde görülmektedir. Hastalar klinikte genellikle tekrarlayan, ciddi enfeksiyonlar veya her ikisiyle beraber ve değişik PİYH ilişkili otoimmünite gelişimiyle karşımıza çıkar. Zamanında teşhis hastanın özel tedavi merkezlerine gönderilmesi ve kök hücre transplantasyonu dahil uygun tedavinin hemen başlaması için kaçınılmazdır. Sonuçta, PİYH’in erken teşhisi optimal bakım ve düzelmiş sürvi (sonuçlar) için esastır. Bu derlemede, en sık görülen PİYH’lerin araştırılması için temel bir yaklaşım, tipik bazı klinik bulgular ve en uygun laboratuar tetkikleri basit tam kan sayımından ileri nesil dizileme gibi genetik testlere kadar, anlatılmaktadır.

Anahtar Kelimeler:

Primer immünyetmezlik hastalığı, kombine immünyetmezlik, ağır kombine immünyetmezlik, teşhis, tedavi

Approach to Primary Immunodeficiency Disease from Frequently used Simple Laboratory Tests in a Daily Clinic Routine

Primary immune deficiency disease (PIDD) is a hereditary disorder, attributable to inherent defects in diverse elements of the immune system. PIDD causes susceptibility to infections and is frequently associated with a tendency to autoimmunity and/or immune dysregulation. Up-to-date, more than 330 PIDD have been defined and the molecular (genetic) origins for more than 320 of them are described. In this group, primary antibody deficiencies are the most common group and approximately 50% of PIDD patients have this defect. Clinical findings of PIDD typically appear early in life, although cases with delayed onset are progressively more documented. Affected PIDD patients usually manifest in clinic with recurrent infections, severe infections, or both, plus autoimmunity development that are accompanied with most of the PIDD. Timely diagnosis is indispensable for transferring patients to specialized centers and the commencement of proper treatment including stem cell transplantation. Consequently, the prompt diagnosis of PIDD is necessary for best possible management and better outcomes. In this review, a basic approach for the exploration of the most common PIDDs is described, outlining some of the typical clinical findings and most appropriate laboratory investigations from simple complete blood count to advanced genetic tests such as next generation sequencing.

Keywords:

Primary immunodeficiency disease, combined immunodeficiency, severe combined immunodeficiency, diagnosis, treatment,

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