Current Approach to Primary Immunodeficiency Diseases

Primary immunodeficiency diseases (PIDD) are inherited disorders resulting from defects in diverse elements of the human immune system. Currently, more than 330 PIDDs have been described, and the molecular (genetic) bases for more than 320 of them are known. PIDD can be divided into nine different groups, including antibody (humoral) deficiencies, innate/intrinsic deficiencies, phagocytic system deficiencies, complement component deficiencies, combined (T and B cells) immunodeficiencies, syndromic combined immunodeficiencies, immune dysregulation disorders, autoinflammatory diseases and phenocopies of PIDD. In the PIDD group, primary antibody deficiencies are the most common group, and approximately 50% of patients with PIDD fall into this group of deficiencies. Congenital primary immunodeficiencies typically appear early in life, although late onset is gradually more identified. Affected patients usually present clinically with recurrent/ severe infections, or clinical pictures resembling various autoimmune or other diseases. An early diagnosis of congenital immunodeficiencies is necessary for transfer to specialized medical centers, and prompt commencement of the optimal treatment, including transplantation and enhanced outcomes. In this review, a general approach is described for the investigation of the most common groups of PIDD, outlining the most appropriate laboratory investigations when the clinician comes across typical clinical pictures and/or infections suggesting immunodeficiency.

Primer İmmün Yetersizlik Hastalıklarına Güncel Yaklaşım

Primer immnün yetersizlik hastalıkları (PİYH) insan bağışıklık sisteminin değişik bileşenlerindeki bozukluklar sonucu oluşan kalıtsal bozukluklardır. Günümüzde 330’dan daha fazla PİYH tanımlanmıştır ve bunların 320’den fazlasının moleküler (genetik) temelleri bilinmektedir. Primer immün yetersizlikler 9 farklı grupta (antikor-humoral-yetersizlik, kombine (T ve B hücre) immün yetersizlik, doğal/intrensek yetersizlikler, fagositik, kompleman sistem bozuklukları, sendromik immün yetersizlikler, immün disregülasyon hastalıkları, otoenflamatuvar bozukluklar, PİY fenokopileri) incelenebilirler. PİYH grubu içinde primer antikor eksiklikleri en sık rastlanan gruptur ve PİYH’nin yaklaşık yarısından fazlasından sorumludur. Doğuştan primer immün yetersizlikler geç başlangıçlı olarak artan oranda tanınmasına rağmen, tipik olarak yaşamın erken döneminde belirti verirler. Hastalığa yakalananlar klinik olarak genellikle tekrarlayan, ciddi enfeksiyonlar veya değişik otoimmün veya diğer hastalıkları taklit eden klinik tablolarla karşımıza çıkar. Doğuştan immün yetersizliklerin erken teşhisi hastanın özel tedavi merkezlerine yönlendirilmesi, transplantasyonu dâhil en uygun tedavinin bir an önce başlaması ve ve daha uzun yaşam şansı için önem arz etmektedir. Bu yazıda, immün yetersizliği düşündüren tipik klinik bulgular ve/veya enfeksiyonlarla karşılaşan klinisyen için en sık görülen PİYH’lerin araştırılmasında istenecek en uygun laboratuvar incelemeleri genel bir yaklaşım içinde anlatılmaktadır.

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Kaynak Göster

Southern Clinics of Istanbul Eurasia
  • ISSN: 2587-0998
  • Yayın Aralığı: Yılda 4 Sayı
  • Başlangıç: 2017

1b367

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